Genomes and Genes
Experts and Doctors on consanguinity in Riyadh, Ar Riyāḑ, Saudi Arabia
Locale: Riyadh, Ar Riyāḑ, Saudi Arabia
- Al Jarallah A. Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity. Med Sci Monit. 2009;15:CR409-12 pubmed..Interesting was the predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD in this DS population. ..
- Kagalwalla A, Kagalwalla Y, Al Ajaji S, Gorka W, Ali M. Phosphorylase b kinase deficiency glycogenosis with cirrhosis of the liver. J Pediatr. 1995;127:602-5 pubmed..Cirrhosis could not be ascribed to any other known cause. We conclude that type IX glycogenosis is not always associated with a benign outcome. ..
- Albakheet A, Qari A, Colak D, Rasheed A, Kaya N, Al Sayed M. A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV. Gene. 2013;526:464-6 pubmed publisher..Emphasis is made on the importance of brain magnetic resonance imaging (MRI) findings and serum gastrin level as key clues to the diagnosis of this often subtle neurodevelopmental disorder. ..
- Abu Amero K, Osman E, Mousa A, Wheeler J, Whigham B, Allingham R, et al. Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Mol Vis. 2011;17:2911-9 pubmed..This will be a valuable parameter in predicting disease severity earlier on and might help in predicting the surgical outcome. ..
- Alangari A, Alsultan A, Adly N, Massaad M, Kiani I, Aljebreen A, et al. LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency. J Allergy Clin Immunol. 2012;130:481-8.e2 pubmed publisher..We identify LRBA as a novel immunodeficiency candidate gene the precise role of which in the immune system requires future studies. ..
- ..Primary adult-onset open-angle glaucoma rarely follows simple Mendelian genetics, but genomic studies in different populations are revealing potential genetic risk factors for the phenotype. ..
- Imtiaz F, Rashed M, Al Mubarak B, Allam R, El Karaksy H, Al Hassnan Z, et al. Identification of mutations causing hereditary tyrosinemia type I in patients of Middle Eastern origin. Mol Genet Metab. 2011;104:688-90 pubmed publisher..All of the mutations were homozygous and we did not find the presence of a "founder mutation". ..
- Wakil S, Bohlega S, Hagos S, Baz B, Al Dossari H, Ramzan K, et al. A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family. Eur J Med Genet. 2013;56:43-5 pubmed publisher..Our results, in concurrence with previous studies suggest that alteration in ERLIN2 is one of the causes of complicated HSP, thereby increasing the spectrum of known mutations in SPG18. ..
- Aldahmesh M, Khan A, Mohamed J, Alkuraya F. Novel recessive BFSP2 and PITX3 mutations: insights into mutational mechanisms from consanguineous populations. Genet Med. 2011;13:978-81 pubmed publisher..Thus, study of consanguineous populations has the additional advantage of not only identifying novel recessive genes but also defining the mutational mechanism of dominant disorders. ..
- Al Dosari M, Shaheen R, Colak D, Alkuraya F. Novel CENPJ mutation causes Seckel syndrome. J Med Genet. 2010;47:411-4 pubmed publisher..CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD...
- Al Dosari M, Al Owain M, Tulbah M, Kurdi W, Adly N, Al Hemidan A, et al. Mutation in MPDZ causes severe congenital hydrocephalus. J Med Genet. 2013;50:54-8 pubmed publisher..Remarkably, we have also identified the same founder mutation in a stillbirth with massive congenital hydrocephalus from another family. Our data strongly support the candidacy of MPDZ as a novel congenital hydrocephalus disease gene. ..
- Shaheen R, Ansari S, Alshammari M, Alkhalidi H, Alrukban H, Eyaid W, et al. A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiency. J Med Genet. 2013;50:431-6 pubmed publisher..Our data implicate COG6 in the pathogenesis of a novel hypohidrotic disorder in humans that is distinct from congenital disorders of glycosylation. ..
- Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, et al. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014;94:898-904 pubmed publisher..This study shows that NLS represents the extreme end of a known inborn error of serine metabolism and highlights the power of genomic sequencing in revealing the unsuspected allelic nature of apparently distinct clinical entities. ..
- Aldahmesh M, Khan A, Hijazi H, Alkuraya F. Mutations in ALDH1A3 cause microphthalmia. Clin Genet. 2013;84:128-31 pubmed publisher..Our data support the very recent and independent identification of ALDH1A3 as a disease gene in microphthalmia. Locus heterogeneity should be considered in consanguineous families even for extremely rare phenotypes. ..
- Faiyaz Ul Haque M, Al Owain M, Al Dayel F, Al Hassnan Z, Al Zaidan H, Rahbeeni Z, et al. Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency. Eur J Pediatr. 2009;168:1467-71 pubmed publisher..This study provides a strong rationale for genetic testing of FBP deficient patients of Arab ethnicity for recurrent or novel mutations in the FBP1 gene. ..
- Khan A, Aldahmesh M, Mohamed J, Alkuraya F. Clinical and molecular analysis of children with central pulverulent cataract from the Arabian Peninsula. Br J Ophthalmol. 2012;96:650-5 pubmed publisher..Primary management in children is typically spectacle correction based on cycloplegic retinoscopy to treat significant refractive error rather than paediatric cataract surgery. ..
- Alkuraya F. Homozygosity mapping: one more tool in the clinical geneticist's toolbox. Genet Med. 2010;12:236-9 pubmed publisher..This article is meant to highlight the clinical utility of this strategy using illustrative clinical examples from the author's own clinical genetics practice. ..
- Safieh L, Al Otaibi H, Lewis R, Kozak I. Novel Mutations in Two Saudi Patients with Congenital Retinal Dystrophy. Middle East Afr J Ophthalmol. 2016;23:139-41 pubmed publisher..8441C > A, p.S2814). Two novel mutations causing phenotypic LCA and AlstrÃ¶m syndrome in Saudi patients from consanguineous families expand the genotypic spectrum of congenital retinal dystrophies. ..
- Al Mayouf S, Sunker A, Abdwani R, Abrawi S, Almurshedi F, Alhashmi N, et al. Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus. Nat Genet. 2011;43:1186-8 pubmed publisher..The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis. ..
- Khan A, Alrashed M, Alkuraya F. 'Cone dystrophy with supranormal rod response' in children. Br J Ophthalmol. 2012;96:422-6 pubmed publisher..ERG findings are characteristic and specific for KCNV2 mutations but do not necessarily include a scotopic b-wave flash response that is supranormal under standard ERG conditions. ..
- Al Dosari M, Al Muhsen S, Al Jazaeri A, Mayerle J, Zenker M, Alkuraya F. Johanson-Blizzard syndrome: report of a novel mutation and severe liver involvement. Am J Med Genet A. 2008;146A:1875-9 pubmed publisher..This report is the first to document severe liver involvement in JBS and raises the possibility that this could be a rare but genuine association. ..
- Salih M, Mundwiller E, Khan A, AlDrees A, Elmalik S, Hassan H, et al. New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations. PLoS ONE. 2013;8:e76831 pubmed publisher..Molecular testing for PLA2G6 mutations is, therefore, indicated in childhood-onset ataxia syndromes, if neuroimaging shows cerebellar atrophy with or without evidence of iron accumulation. ..
- Alazami A, Hijazi H, Al Dosari M, Shaheen R, Hashem A, Aldahmesh M, et al. Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus. J Med Genet. 2013;50:425-30 pubmed publisher..Our results show the first human mutation in the t-RNA editing machinery and expand the landscape of pathways involved in the pathogenesis of ID. ..
- Salih M, Abu Amero K, Alrasheed S, Alorainy I, Liu L, McGrath J, et al. Molecular and neurological characterizations of three Saudi families with lipoid proteinosis. BMC Med Genet. 2011;12:31 pubmed publisher..Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity. ..
- Khan A, Aldahmesh M, Al Abdi L, Mohamed J, Hashem M, Al Ghamdi I, et al. Molecular characterization of newborn glaucoma including a distinct aniridic phenotype. Ophthalmic Genet. 2011;32:138-42 pubmed publisher..The fact that the 9% of cases that were CYP1B1-negative did not have mutations in LTBP2 suggests that there exists at least 1 additional locus for this condition. ..
- Khan A, Shinwari J, Omar A, Al Sharif L, Khalil D, Alanazi M, et al. Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families. Mol Vis. 2011;17:218-24 pubmed..Further studies of such families will hopefully uncover the specific locus(loci). ..
- Al Owain M, Kaya N, Al Zaidan H, Bin Hussain I, Al Manea H, Al Hindi H, et al. Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy. Clin Dev Immunol. 2010;2010:586342 pubmed publisher..This is, to the best of our knowledge, the first paper showing evidence of autoimmune nephropathy by renal immunofluorescence in a patient with APECED and terminal 4q deletion. ..
- Aldahmesh M, Abu Safieh L, Khan A, Al Hassnan Z, Shaheen R, Rajab M, et al. Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example. Am J Med Genet A. 2009;149A:662-5 pubmed publisher..While we frequently assume founder effect in inbred populations, this report should serve to remind us of the powerful effect of the consanguinity factor, a common confounding variable among some of those populations. ..
- Aldahmesh M, Khan A, Meyer B, Alkuraya F. Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia. Invest Ophthalmol Vis Sci. 2009;50:4142-5 pubmed publisher..In this small cohort, no evidence was found of genetic heterogeneity in CHED and that loss of BTR1 function is the most likely mutational mechanism. ..
- Alshammari M, Al Otaibi L, Alkuraya F. Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve--Melchior--Clausen locus. J Med Genet. 2012;49:455-61 pubmed publisher..Autosomal recessive mutations in DYM are known to cause this disease through its role in Golgi organisation and intracellular traffic, but genetic heterogeneity is suspected...
- Imtiaz F, Taibah K, Bin Khamis G, Kennedy S, Hemidan A, Al Qahtani F, et al. USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis. Mol Vis. 2012;18:1885-94 pubmed..In addition to reporting a novel truncating mutation, this report expands the retinal phenotype in USH1G and presents the first report of successful cochlear implants in this disease. ..
- Shaheen R, Alazami A, Alshammari M, Faqeih E, Alhashmi N, Mousa N, et al. Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation. J Med Genet. 2012;49:630-5 pubmed publisher..Our aim was to study the contribution of known genes to AR OI in order to identify novel loci in mutation-negative cases...
- Shamseldin H, Alshammari M, Al Sheddi T, Salih M, Alkhalidi H, Kentab A, et al. Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes. J Med Genet. 2012;49:234-41 pubmed publisher..These findings expand the repertoire of genes that are mutated in patients with mitochondrial disorders and highlight the value of integrating genomic approaches in the evaluation of these patients. ..
- Aldahmesh M, Khan A, Mohamed J, Alkuraya H, Ahmed H, Bobis S, et al. Identification of ADAMTS18 as a gene mutated in Knobloch syndrome. J Med Genet. 2011;48:597-601 pubmed publisher..The power of combining exome and autozygome analysis in the study of genetics of autosomal recessive disorders, even in simplex cases, has been demonstrated. ..
- Seidahmed M, Alyamani E, Rashed M, Saadallah A, Abdelbasit O, Shaheed M, et al. Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. Am J Med Genet A. 2005;136:205-9 pubmed
- Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, et al. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat. 2012;33:351-4 pubmed publisher..Our characterization of the PIK3R5 protein and findings suggest that it may play a role in the development of the cerebellum and vermis...
- Khan A, Aldahmesh M, Alkuraya F. Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations. Mol Vis. 2011;17:2570-9 pubmed..Complete dislocation of the crystalline lens into the anterior chamber during early childhood can occur in young children with this unique phenotype. ..
- Alsmadi O, Meyer B, Alkuraya F, Wakil S, Alkayal F, Al Saud H, et al. Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3). Eur J Hum Genet. 2009;17:14-21 pubmed publisher..Conserved glycine/proline residues are central to the 'beta-trefoil fold' characteristic of the secondary structure of FGF family proteins and substitution of these residues is likely to disrupt structure and consequently function. ..
- Abu Amero K, Kapoor S, Hellani A, Monga S, Bosley T. Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3. Ophthalmic Genet. 2011;32:231-6 pubmed publisher..Family members in general were severely affected, but comparison of this family to other families with ROBO3 mutations did not yield a definitive phenotype-genotype correlation. ..
- Aljohar A, Ravichandran K, Subhani S. Pattern of cleft lip and palate in hospital-based population in Saudi Arabia: retrospective study. Cleft Palate Craniofac J. 2008;45:592-6 pubmed publisher..0% of the children with isolated cleft lip or cleft lip and palate had associated malformations. The pattern of cleft observed in this study does not differ significantly from those reported in the literature for Arab populations. ..
- Shaheen R, Ansari S, Mardawi E, Alshammari M, Alkuraya F. Mutations in TMEM231 cause Meckel-Gruber syndrome. J Med Genet. 2013;50:160-2 pubmed publisher..TMEM231 represents a novel MKS locus. The very recent identification of TMEM231 mutations in Joubert syndrome supports the growing appreciation of the overlap in the molecular pathogenesis between these two ciliopathies. ..
- Khan A, Oystreck D, Koenig M, Salih M. Ophthalmic features of ataxia telangiectasia-like disorder. J AAPOS. 2008;12:186-9 pubmed..The purpose of this article is to describe the ophthalmic features of ATLD...
- Sallout B, Al Hoshan M, Attyyaa R, Al Suleimat A. Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: a hospital-based study. Ann Saudi Med. 2008;28:272-6 pubmed..The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. ..
- Alqattan M, Alabdulkareem I, Ballow M, Al Balwi M. A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS). Gene. 2013;527:371-5 pubmed publisher..We make the argument that these two syndromes are two different entities and hence require two different MIM entries. ..
- Al Dosari M, Alkuraya F. A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. Am J Med Genet A. 2009;149A:2093-8 pubmed publisher..Our study, therefore, supplements the limited available data on SCYL1BP1 and further establishes deficiency of this recently described golgin as the only known cause of GO. ..
- Shaheen R, Aglan M, Keppler Noreuil K, Faqeih E, Ansari S, Horton K, et al. Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome. Am J Hum Genet. 2013;92:598-604 pubmed publisher..Our findings highlight a developmental role of O-GlcNAcylation in humans and expand the genetic heterogeneity of autosomal-recessive AOS. ..
- Aldahmesh M, Mohamed J, AlKuraya H, Verma I, Puri R, Alaiya A, et al. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia. Am J Hum Genet. 2011;89:745-50 pubmed publisher..Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development...
- Khan A, Aldahmesh M, Mohamed J, Al Mesfer S, Alkuraya F. The distinct ophthalmic phenotype of Knobloch syndrome in children. Br J Ophthalmol. 2012;96:890-5 pubmed publisher..Although it is a defining feature of the syndrome, clinically discernible occipital defect is not a sine qua non for the diagnosis. Ophthalmologists are uniquely able to diagnose Knobloch syndrome. ..
- Al Hassnan Z, Almesned A, Tulbah S, Hakami A, Al Omrani A, Al Sehly A, et al. Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. Am J Cardiol. 2012;109:1677-80 pubmed publisher..In conclusion, our work suggests that in families with apparently recessively inherited AA, molecular analysis of EFEMP2 gene might be warranted. ..
- Al Salloum A, Muthanna A, Bassrawi R, Al Shehab A, Al Ibrahim A, Islam M, et al. Long-term outcome of the difficult nephrotic syndrome in children. Saudi J Kidney Dis Transpl. 2012;23:965-72 pubmed publisher..We suggest longer initial treatment at onset for this group of patients. The low incidence of infection in this group needs to be addressed in future studies. ..
- Al Owain M, Imtiaz F, Shuaib T, Edrees A, Al Amoudi M, Sakati N, et al. Smith-Lemli-Opitz syndrome among Arabs. Clin Genet. 2012;82:165-72 pubmed publisher..The paper sheds light on this rare disease among Arabs and reviews all reported SLOS cases in the Arab population. ..
- Shaheen R, Shamseldin H, Loucks C, Seidahmed M, Ansari S, Ibrahim Khalil M, et al. Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. Am J Hum Genet. 2014;94:73-9 pubmed publisher..Our results expand the list of centrosomal proteins implicated in human ciliopathies. ..
- Abu Safieh L, Aldahmesh M, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, et al. Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping. J Med Genet. 2010;47:236-41 pubmed publisher..This study, the largest to date on Saudi BBS families, also revealed interesting phenotypic aspects of BBS, including the first report of non-syndromic retinitis pigmentosa as a novel BBS phenotype. ..
- Khan A, Shinwari J, Abu Dhaim N, Khalil D, Al Sharif L, Al Tassan N. Potential linkage of different phenotypic forms of childhood strabismus to a recessive susceptibility locus (16p13.12-p12.3). Mol Vis. 2011;17:971-6 pubmed..Linkage analysis in this unique family suggests that childhood strabismus can be recessive and that different phenotypic forms of childhood strabismus can share the same underlying genotype. ..
- Alghamdi K, Alsaedi A, AlJasser A, Altawil A, Kamal N. Extended clinical features associated with novel Glis3 mutation: a case report. BMC Endocr Disord. 2017;17:14 pubmed publisher..We suggest that infants with neonatal diabetes associated with dysmorphism should be screened for GLIS3 gene mutations. ..
- Khan A, Aldahmesh M, Al Ghadeer H, Mohamed J, Alkuraya F. Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet. 2012;33:235-9 pubmed publisher..Asp218ThrfsX41) that segregated with the phenotype. Recessive ADAMTS17 mutations are a recurrent cause of isolated spherophakia with short stature. In Saudi Arabia this phenotype shows allelic heterogeneity rather than founder effect. ..
- Wakil S, Ramzan K, Abuthuraya R, Hagos S, Al Dossari H, Al Omar R, et al. Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T. Gene. 2014;536:217-20 pubmed publisher..This study highlights the importance of using homozygosity mapping combined with candidate gene analysis to identify the underlying genetic defect as in this Saudi consanguineous family. ..
- Abu Amero K, Al Dhalaan H, Al Zayed Z, Hellani A, Bosley T. Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. J Neurol Sci. 2009;276:22-6 pubmed publisher..The ROBO3 gene does not appear to have an obvious hot spot area for mutations; therefore, we recommend sequencing all exons and exon-intron boundaries in patients with clinical and/or radiologic features of HGPPS. ..
- Khan A, Oystreck D, Al Tassan N, Al Sharif L, Bosley T. Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu). Ophthalmology. 2008;115:2262-5 pubmed publisher..The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
- Al Jumah M, Kojan S, Al Khathaami A, Al Abdulkaream I, Al Blawi M, Jawhary A. Familial multiple sclerosis: does consanguinity have a role?. Mult Scler. 2011;17:487-9 pubmed publisher..In conclusion, FMS is prevalent among Saudi MS patients. MS patients with a history of PC were more likely to have FMS, suggesting a potential role of consanguinity. ..
- Abu Amero K, Hellani A, Salih M, Al Hussain A, al Obailan M, Zidan G, et al. Ophthalmologic abnormalities in a de novo terminal 6q deletion. Ophthalmic Genet. 2010;31:1-11 pubmed publisher..Deleted genes in this area of chromosome 6 may contribute to ophthalmic abnormalities in addition to mental retardation. ..
- Eyaid W, Al Harbi T, Anazi S, Wamelink M, Jakobs C, Al Salammah M, et al. Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype. J Inherit Metab Dis. 2013;36:997-1004 pubmed publisher..This study expands the clinical definition of transaldolase deficiency, and adds to its allelic heterogeneity. In addition, we emphasize the diagnostic challenge posed by this rare and pleiotropic metabolic disorder. ..
- Alzahrani A, Zou M, Baitei E, Alshaikh O, Al Rijjal R, Meyer B, et al. A novel G102E mutation of CYP27B1 in a large family with vitamin D-dependent rickets type 1. J Clin Endocrinol Metab. 2010;95:4176-83 pubmed publisher..Mutations in the CYP27B1 gene, which encodes vitamin D 1alpha-hydroxylase, are the genetic basis for vitamin D-dependent rickets type 1 (VDDR-I)...
- Shaheen R, Sebai M, Patel N, Ewida N, Kurdi W, Altweijri I, et al. The genetic landscape of familial congenital hydrocephalus. Ann Neurol. 2017;81:890-897 pubmed publisher..Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. ..