microcephaly

Summary

Summary: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)

Top Publications

  1. He M, Kratz L, Michel J, Vallejo A, Ferris L, Kelley R, et al. Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. J Clin Invest. 2011;121:976-84 pubmed publisher
    ..recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay...
  2. Bilgüvar K, Oztürk A, Louvi A, Kwan K, Choi M, Tatli B, et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010;467:207-10 pubmed publisher
    ..WD repeat domain 62 (WDR62) as the cause of a wide spectrum of severe cerebral cortical malformations including microcephaly, pachygyria with cortical thickening as well as hypoplasia of the corpus callosum...
  3. Griffith E, Walker S, Martin C, Vagnarelli P, Stiff T, Vernay B, et al. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet. 2008;40:232-6 pubmed
    ..These findings also suggest that other known microcephaly genes implicated in either DNA repair responses or centrosomal function may act in common developmental ..
  4. Rimol L, Agartz I, Djurovic S, Brown A, Roddey J, Kähler A, et al. Sex-dependent association of common variants of microcephaly genes with brain structure. Proc Natl Acad Sci U S A. 2010;107:384-8 pubmed publisher
    Loss-of-function mutations in the genes associated with primary microcephaly (MCPH) reduce human brain size by about two-thirds, without producing gross abnormalities in brain organization or physiology and leaving other organs largely ..
  5. Atchaneeyasakul L, Trinavarat A, Wanumkarng N, Samsen P, Thanasombatsakul N. Value of electrodiagnostic assessment in nonsyndromic microcephaly. Eur J Ophthalmol. 2003;13:702-9 pubmed
    To evaluate the value of electroretinogram (ERG) and visual evoked potentials (VEP) in children with nonsyndromic microcephaly.
  6. Kim H, Lee M, Choi J, Jung J, Ahn D, Yeo S, et al. The microcephaly gene aspm is involved in brain development in zebrafish. Biochem Biophys Res Commun. 2011;409:640-4 pubmed publisher
  7. Luquetti D, Hing A, Rieder M, Nickerson D, Turner E, Smith J, et al. "Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. Am J Med Genet A. 2013;161A:108-13 pubmed publisher
    ..identified in 12 individuals with a rare sporadic craniofacial condition termed Mandibulofacial dysostosis with microcephaly (MIM 610536)...
  8. Gonzaga Jauregui C, Lotze T, Jamal L, Penney S, Campbell I, Pehlivan D, et al. Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol. 2013;70:1491-8 pubmed publisher
    ..families presented with a complex neuropathy phenotype characterized by axonal sensorimotor neuropathy and microcephaly. They were recruited into the Centers for Mendelian Genomics research program to identify the molecular cause ..
  9. Martin C, Ahmad I, Klingseisen A, Hussain M, Bicknell L, Leitch A, et al. Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014;46:1283-1292 pubmed publisher
    ..However, mutations in centriole biogenesis genes have been reported in primary microcephaly and Seckel syndrome, disorders without the hallmark clinical features of ciliopathies...

More Information

Publications74

  1. Passemard S, Kaindl A, Verloes A. Microcephaly. Handb Clin Neurol. 2013;111:129-41 pubmed publisher
    True microcephaly (head circumference ?-3SD), either primary (present at birth) or secondary (of postnatal onset) results from an imbalance between progenitor cell production and cell death that lead to a reduced number of neuronal and ..
  2. Bakircioglu M, Carvalho O, Khurshid M, Cox J, Tuysuz B, Barak T, et al. The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. Am J Hum Genet. 2011;88:523-35 pubmed publisher
    We investigated three families whose offspring had extreme microcephaly at birth and profound mental retardation...
  3. Awad S, Al Dosari M, al Yacoub N, Colak D, Salih M, Alkuraya F, et al. Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet. 2013;22:2200-13 pubmed publisher
    Primary microcephaly (PM) is a developmental disorder of early neuroprogenitors that results in reduction of the brain mass, particularly the cortex...
  4. Hazan F, Ostergaard P, Ozturk T, Kantekin E, Atlihan F, Jeffery S, et al. A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. Am J Med Genet A. 2012;158A:1686-9 pubmed publisher
    b>Microcephaly-lymphedema-chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992...
  5. Lines M, Huang L, Schwartzentruber J, Douglas S, Lynch D, Beaulieu C, et al. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet. 2012;90:369-77 pubmed publisher
    Mandibulofacial dysostosis with microcephaly (MFDM) is a rare sporadic syndrome comprising craniofacial malformations, microcephaly, developmental delay, and a recognizable dysmorphic appearance...
  6. Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, et al. The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter. Eur J Hum Genet. 2011;19:942-6 pubmed publisher
    ..four surviving affected individuals, all presenting with severe failure to thrive, psychomotor retardation, microcephaly, micrognathia and spasticity with variable degree of hand contractures...
  7. Ho A, Liu A, Lun K, Tang W, Chan K, Lau E, et al. A newborn with a 790 kb chromosome 17p13.3 microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial features - is cardiac assessment necessary for all patients with 17p13.3 microduplication?. Eur J Med Genet. 2012;55:758-62 pubmed publisher
    ..We report a Chinese newborn presenting with dysmorphic features, microcephaly and valvar aortic stenosis, who was confirmed to have a 790 kb microduplication in chromosome 17p13...
  8. Butler M, Dagenais S, Garcia Perez J, Brouillard P, Vikkula M, Strouse P, et al. Microcephaly, intellectual impairment, bilateral vesicoureteral reflux, distichiasis, and glomuvenous malformations associated with a 16q24.3 contiguous gene deletion and a Glomulin mutation. Am J Med Genet A. 2012;158A:839-49 pubmed publisher
    ..In this report, we describe a proband that presented with distichiasis, microcephaly, bilateral grade IV vesicoureteral reflux requiring ureteral re-implantation, mild intellectual impairment and ..
  9. Ostergaard P, Simpson M, Mendola A, Vasudevan P, Connell F, van Impel A, et al. Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. Am J Hum Genet. 2012;90:356-62 pubmed publisher
    We have identified KIF11 mutations in individuals with syndromic autosomal-dominant microcephaly associated with lymphedema and/or chorioretinopathy...
  10. Tang C, Lin S, Hsu W, Lin Y, Wu C, Lin Y, et al. The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation. EMBO J. 2011;30:4790-804 pubmed publisher
    ..Mutations in STIL and CPAP/CENPJ cause primary microcephaly (MCPH)...
  11. Kousar R, Hassan M, Khan B, Basit S, Mahmood S, Mir A, et al. Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly. BMC Neurol. 2011;11:119 pubmed publisher
    Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date...
  12. Marchal J, Ghani M, Schindler D, Gavvovidis I, Winkler T, Esquitino V, et al. Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle. 2011;10:2967-77 pubmed
    Primary autosomal recessive microcephaly (MCPH) is a congenital disorder characterized by a pronounced reduction of brain size and mental retardation...
  13. Bettencourt Dias M, Hildebrandt F, Pellman D, Woods G, Godinho S. Centrosomes and cilia in human disease. Trends Genet. 2011;27:307-15 pubmed publisher
    ..Here, we give an overview of recent developments in this field, focusing on cancer, diseases of brain development and ciliopathies. ..
  14. Fitzgerald B, O Driscoll M, Chong K, Keating S, Shannon P. Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms. Brain Dev. 2012;34:238-43 pubmed publisher
    ..syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly and mental retardation...
  15. Ismail S, Schaffer A, Rosti R, Gleeson J, Zaki M. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene. 2014;539:279-82 pubmed publisher
    ..In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations...
  16. Mahmood S, Ahmad W, Hassan M. Autosomal Recessive Primary Microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis. 2011;6:39 pubmed publisher
    Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation...
  17. Memon M, Raza S, Basit S, Kousar R, Ahmad W, Ansar M. A novel WDR62 mutation causes primary microcephaly in a Pakistani family. Mol Biol Rep. 2013;40:591-5 pubmed publisher
    Autosomal recessive primary microcephaly (MCPH) is a heterogeneous disorder which mainly affects neurodevelopment...
  18. Yue J, Lu H, Lan S, Liu J, Stein M, Haffty B, et al. Identification of the DNA repair defects in a case of Dubowitz syndrome. PLoS ONE. 2013;8:e54389 pubmed publisher
    Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation...
  19. Issa L, Mueller K, Seufert K, Kraemer N, Rosenkotter H, Ninnemann O, et al. Clinical and cellular features in patients with primary autosomal recessive microcephaly and a novel CDK5RAP2 mutation. Orphanet J Rare Dis. 2013;8:59 pubmed publisher
    Primary autosomal recessive microcephaly (MCPH) is a rare neurodevelopmental disorder that results in severe microcephaly at birth with pronounced reduction in brain volume, particularly of the neocortex, simplified cortical gyration and ..
  20. Megraw T, Sharkey J, Nowakowski R. Cdk5rap2 exposes the centrosomal root of microcephaly syndromes. Trends Cell Biol. 2011;21:470-80 pubmed publisher
    Autosomal recessive primary microcephaly (MCPH) is characterized by small brain size as a result of deficient neuron production in the developing cerebral cortex...
  21. Pierce M, Morse R. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature. Am J Med Genet A. 2012;158A:606-10 pubmed publisher
    ..Increased knowledge of the neurological profile of Taybi-Linder syndrome may be helpful for clinicians and genetic counselors managing these patients...
  22. Singhmar P, Kumar A. Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. PLoS ONE. 2011;6:e20397 pubmed publisher
    Many proteins associated with the phenotype microcephaly have been localized to the centrosome or linked to it functionally. All the seven autosomal recessive primary microcephaly (MCPH) proteins localize at the centrosome...
  23. Campbell I, Kolodziejska K, Quach M, Wolf V, Cheung S, Lalani S, et al. TGFBR2 deletion in a 20-month-old female with developmental delay and microcephaly. Am J Med Genet A. 2011;155A:1442-7 pubmed publisher
    ..comparative genomic hybridization, we identified an ?896 kb deletion of TGFBR2 in a 20-month-old female with microcephaly and global developmental delay, but no stigmata of LDS...
  24. Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan M, Jackson S, et al. CtIP Mutations Cause Seckel and Jawad Syndromes. PLoS Genet. 2011;7:e1002310 pubmed publisher
    Seckel syndrome is a recessively inherited dwarfism disorder characterized by microcephaly and a unique head profile...
  25. Hussain M, Baig S, Neumann S, Peche V, Szczepanski S, Nurnberg G, et al. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013;22:5199-214 pubmed publisher
    Autosomal recessive primary microcephaly (MCPH) is characterized by reduced head circumference, reduction in the size of the cerebral cortex with otherwise grossly normal brain structure and variable intellectual disability...
  26. Poulton C, Schot R, Kia S, Jones M, Verheijen F, Venselaar H, et al. Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors. Am J Hum Genet. 2011;89:265-76 pubmed publisher
    We describe a syndrome of primary microcephaly with simplified gyral pattern in combination with severe infantile epileptic encephalopathy and early-onset permanent diabetes in two unrelated consanguineous families with at least three ..
  27. Bhat V, Girimaji S, Mohan G, Arvinda H, Singhmar P, Duvvari M, et al. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations. Clin Genet. 2011;80:532-40 pubmed publisher
    Primary microcephaly is an autosomal recessive disorder characterized by smaller than normal brain size and mental retardation. It is genetically heterogeneous with seven loci: MCPH1-MCPH7...
  28. Walne A, Vulliamy T, Kirwan M, Plagnol V, Dokal I. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet. 2013;92:448-53 pubmed publisher
    ..They also demonstrate the severe multisystem consequences of its dysfunction...
  29. Le Guen T, Jullien L, Touzot F, Schertzer M, Gaillard L, Perderiset M, et al. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. Hum Mol Genet. 2013;22:3239-49 pubmed publisher
    ..Collectively, these results identify RTEL1 as a novel HHS-causing gene and highlight its role as a genomic caretaker in humans. ..
  30. Breuss M, Heng J, Poirier K, Tian G, Jaglin X, Qu Z, et al. Mutations in the ?-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep. 2012;2:1554-62 pubmed publisher
    ..Our results provide insight into the functional repertoire of the tubulin gene family, specifically implicating TUBB5 in embryonic neurogenesis and microcephaly.
  31. Lancaster M, Renner M, Martin C, Wenzel D, Bicknell L, Hurles M, et al. Cerebral organoids model human brain development and microcephaly. Nature. 2013;501:373-9 pubmed publisher
    ..Finally, we use RNA interference and patient-specific induced pluripotent stem cells to model microcephaly, a disorder that has been difficult to recapitulate in mice...
  32. Bogoyevitch M, Yeap Y, Qu Z, Ngoei K, Yip Y, Zhao T, et al. WD40-repeat protein 62 is a JNK-phosphorylated spindle pole protein required for spindle maintenance and timely mitotic progression. J Cell Sci. 2012;125:5096-109 pubmed publisher
    ..protein 62 (WDR62) was recently identified as a spindle pole protein linked to the neurodevelopmental defect of microcephaly but its roles in mitosis have not been defined...
  33. Kitagawa D, Kohlmaier G, Keller D, Strnad P, Balestra F, Flückiger I, et al. Spindle positioning in human cells relies on proper centriole formation and on the microcephaly proteins CPAP and STIL. J Cell Sci. 2011;124:3884-93 pubmed publisher
    Patients with MCPH (autosomal recessive primary microcephaly) exhibit impaired brain development, presumably due to the compromised function of neuronal progenitors...
  34. Turkbeyler I, Pehlivan Y, Comez G, Pehlivan D, Sevinc A, Kalender M, et al. Esophagus cancer and IgA deficiency in a patient with Dubowitz syndrome: a case report. Tokai J Exp Clin Med. 2011;36:29-30 pubmed
    ..However, Esophagus cancer has not been reported among the malignant tumors. Herein, we reported a patient with Dubowitz syndrome, IgA deficiency and Esophagus cancer...
  35. Zhou Z, Tapias A, Bruhn C, Gruber R, Sukchev M, Wang Z. DNA damage response in microcephaly development of MCPH1 mouse model. DNA Repair (Amst). 2013;12:645-55 pubmed publisher
    ..protein MCPH1/Microcephalin/BRIT1, mutations of which in humans cause autosomal recessive disorder primary microcephaly type 1 (MCPH1), characterized by a congenital reduction of brain size particularly in the cerebral cortex...
  36. Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, et al. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013;45:639-47 pubmed publisher
  37. Passemard S, El Ghouzzi V, Nasser H, Verney C, Vodjdani G, Lacaud A, et al. VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling. J Clin Invest. 2011;121:3071-87 pubmed publisher
    Autosomal recessive primary microcephaly (MCPH) is a genetic disorder that causes a reduction of cortical outgrowth without severe interference with cortical patterning...
  38. Bacino C, Arriola L, Wiszniewska J, Bonnen P. WDR62 missense mutation in a consanguineous family with primary microcephaly. Am J Med Genet A. 2012;158A:622-5 pubmed publisher
    We report on a consanguineous couple with two affected sons who presented with primary microcephaly and moderate to severe intellectual disabilities...
  39. Montgomery S, Mundy N. Microcephaly genes and the evolution of sexual dimorphism in primate brain size. J Evol Biol. 2013;26:906-11 pubmed publisher
    b>Microcephaly genes are amongst the most intensively studied genes with candidate roles in brain evolution...
  40. Ballif B, Rosenfeld J, Traylor R, Theisen A, Bader P, Ladda R, et al. High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44. Hum Genet. 2012;131:145-56 pubmed publisher
    ..disability (ID) with limited or no expressive speech, characteristic facial features, hand and foot anomalies, microcephaly (MIC), abnormalities (agenesis/hypogenesis) of the corpus callosum (ACC), and seizures (SZR)...
  41. Yang Y, Baltus A, Mathew R, Murphy E, Evrony G, Gonzalez D, et al. Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation. Cell. 2012;151:1097-112 pubmed publisher
    b>Microcephaly is a neurodevelopmental disorder causing significantly reduced cerebral cortex size. Many known microcephaly gene products localize to centrosomes, regulating cell fate and proliferation...
  42. Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, et al. Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome. PLoS Genet. 2012;8:e1002945 pubmed publisher
    ..Seckel Syndrome is characterised by microcephaly and growth delay, features also displayed by several related disorders including Majewski (microcephalic) ..
  43. Courcet J, Faivre L, Malzac P, Masurel Paulet A, Lopez E, Callier P, et al. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy. J Med Genet. 2012;49:731-6 pubmed publisher
    ..brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome...
  44. Woods C, Parker A. Investigating microcephaly. Arch Dis Child. 2013;98:707-13 pubmed publisher
    1. Microcephaly is a clinical finding, not a 'disease', and is a crude but trusted assessment of intracranial brain volume. 2. Developmental processes reducing in utero neuron generation present at birth with 'Primary microcephaly'. 3...
  45. Mirzaa G, Paciorkowski A, Smyser C, Willing M, Lind A, Dobyns W. The microcephaly-capillary malformation syndrome. Am J Med Genet A. 2011;155A:2080-7 pubmed publisher
    ..children from two families with a new pattern recognition malformation syndrome consisting of severe congenital microcephaly (MIC), intractable epilepsy including infantile spasms, and generalized capillary malformations that was first ..
  46. Hirose M, Haginoya K, Yokoyama H, Kikuchi A, Hino Fukuyo N, Munakata M, et al. Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space. Neuropediatrics. 2011;42:163-6 pubmed publisher
    This is a case report that describes 2 sisters with microcephaly, simplified gyri, and enlarged extraaxial space...
  47. Paciorkowski A, Keppler Noreuil K, Robinson L, Sullivan C, Sajan S, Christian S, et al. Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption. Am J Med Genet A. 2013;161A:1523-30 pubmed publisher
    ..We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)-like phenotype with inherited ..
  48. Marthiens V, Rujano M, Pennetier C, Tessier S, Paul Gilloteaux P, Basto R. Centrosome amplification causes microcephaly. Nat Cell Biol. 2013;15:731-40 pubmed publisher
    ..We show that centrosome amplification causes microcephaly due to inefficient clustering mechanisms, where NSCs divide in a multipolar fashion producing aneuploid cells ..
  49. Sir J, Barr A, Nicholas A, Carvalho O, Khurshid M, Sossick A, et al. A primary microcephaly protein complex forms a ring around parental centrioles. Nat Genet. 2011;43:1147-53 pubmed publisher
    Autosomal recessive primary microcephaly (MCPH) is characterized by a substantial reduction in prenatal human brain growth without alteration of the cerebral architecture and is caused by biallelic mutations in genes coding for a subset ..
  50. Perche O, Menuet A, Marcos M, Liu L, Pâris A, Utami K, et al. Combined deletion of two Condensin II system genes (NCAPG2 and MCPH1) in a case of severe microcephaly and mental deficiency. Eur J Med Genet. 2013;56:635-41 pubmed publisher
    7qter deletion syndrome includes prenatal and/or postnatal growth retardation, microcephaly, psychomotor delay or mental retardation and a characteristic dysmorphism...
  51. Cottee M, Muschalik N, Wong Y, Johnson C, Johnson S, Andreeva A, et al. Crystal structures of the CPAP/STIL complex reveal its role in centriole assembly and human microcephaly. elife. 2013;2:e01071 pubmed publisher
    ..Several centriole and centrosome proteins have been linked to microcephaly (MCPH), a neuro-developmental disease associated with small brain size...
  52. Gruber R, Zhou Z, Sukchev M, Joerss T, Frappart P, Wang Z. MCPH1 regulates the neuroprogenitor division mode by coupling the centrosomal cycle with mitotic entry through the Chk1-Cdc25 pathway. Nat Cell Biol. 2011;13:1325-34 pubmed publisher
    Primary microcephaly 1 is a neurodevelopmental disorder caused by mutations in the MCPH1 gene, whose product MCPH1 (also known as microcephalin and BRIT1) regulates DNA-damage response...
  53. Pastora N, Peralta J, Canal Fontcuberta I, Grabowska A, Pulido J, Abelairas J, et al. Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders. Ophthalmic Genet. 2012;33:116-8 pubmed publisher
    b>Microcephaly-lymphedema-chorioretinal dysplasia (OMIM 152950) is a rare malformative inherited disorder that can be associated with other systemic features...
  54. Reynolds J, Walker A, Gilmore E, Walsh C, Caldecott K. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. Nucleic Acids Res. 2012;40:6608-19 pubmed publisher
    b>Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5'-kinase and DNA 3'-..
  55. McIntyre R, Lakshminarasimhan Chavali P, Ismail O, Carragher D, Sanchez Andrade G, Forment J, et al. Disruption of mouse Cenpj, a regulator of centriole biogenesis, phenocopies Seckel syndrome. PLoS Genet. 2012;8:e1003022 pubmed publisher
    ..which is a highly conserved and ubiquitiously expressed centrosomal protein, has been associated with primary microcephaly and the microcephalic primordial dwarfism disorder Seckel syndrome...
  56. Hussain M, Baig S, Neumann S, Nurnberg G, Farooq M, Ahmad I, et al. A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012;90:871-8 pubmed publisher
    Autosomal-recessive primary microcephaly (MCPH) is a rare congenital disorder characterized by intellectual disability, reduced brain and head size, but usually without defects in cerebral cortical architecture, and other syndromic ..
  57. Guven A, Gunduz A, Bozoglu T, Yalcinkaya C, Tolun A. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. Neurogenetics. 2012;13:189-94 pubmed publisher
    ..Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly...
  58. Genin A, Desir J, Lambert N, Biervliet M, Van der Aa N, Pierquin G, et al. Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012;21:5306-17 pubmed publisher
    ..genes expressed at the centrosome or spindle pole have been reported to underlie autosomal recessive primary microcephaly (MCPH), a neurodevelopmental disorder consisting of an important brain size reduction present since birth, ..
  59. Tagliabracci V, Engel J, Wen J, Wiley S, Worby C, Kinch L, et al. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science. 2012;336:1150-3 pubmed publisher
    ..Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome. Fam20C is thus a protein kinase dedicated to the phosphorylation of extracellular proteins...
  60. Zerem A, Vinkler C, Michelson M, Leshinsky Silver E, Lerman Sagie T, Lev D. Mosaic marker chromosome 16 resulting in 16q11.2-q12.1 gain in a child with intellectual disability, microcephaly, and cerebellar cortical dysplasia. Am J Med Genet A. 2011;155A:2991-6 pubmed publisher
    ..We report on a child presenting with mild-to-moderate intellectual disability, microcephaly, language dyspraxia, and mild dysmorphisms who was found to have a mosaic gain of chromosome 16q (16q11.2-16q12...
  61. Mokrani Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, et al. Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. Hum Mutat. 2013;34:374-84 pubmed publisher
    ..Seckel syndrome, a rare genetic disorder characterized by a microcephaly and a markedly reduced body size, has been associated with defective ATR-dependent DNA damage signaling...
  62. Issa L, Kraemer N, Rickert C, Sifringer M, Ninnemann O, Stoltenburg Didinger G, et al. CDK5RAP2 expression during murine and human brain development correlates with pathology in primary autosomal recessive microcephaly. Cereb Cortex. 2013;23:2245-60 pubmed publisher
    ..kinase-5 regulatory subunit-associated protein 2 gene CDK5RAP2 cause primary autosomal recessive microcephaly (MCPH)...
  63. Alkuraya F, Cai X, Emery C, Mochida G, Al Dosari M, Felie J, et al. Human mutations in NDE1 cause extreme microcephaly with lissencephaly [corrected]. Am J Hum Genet. 2011;88:536-47 pubmed publisher
    Genes disrupted in human microcephaly (meaning "small brain") define key regulators of neural progenitor proliferation and cell-fate specification...
  64. Sajid Hussain M, Marriam Bakhtiar S, Farooq M, Anjum I, Janzen E, Reza Toliat M, et al. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet. 2013;83:446-51 pubmed publisher
    Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India...
  65. Halevy A, Basel Vanagaite L, Shuper A, Helman S, Har Zahav A, Birk E, et al. Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12. Pediatr Neurol. 2012;46:363-8 pubmed publisher
    Postnatal microcephaly is defined as normal head circumference at birth, which progressively declines to more than 2 standard deviations below the average for the patient's age and sex...