Laurent Villard

Summary

Country: France

Publications

  1. pmc A locus for bilateral perisylvian polymicrogyria maps to Xq28
    Laurent Villard
    INSERM U491, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    Am J Hum Genet 70:1003-8. 2002
  2. pmc MECP2 mutations in males
    Laurent Villard
    INSERM, U491, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 44:417-23. 2007
  3. ncbi request reprint Two affected boys in a Rett syndrome family: clinical and molecular findings
    L Villard
    INSERM U491, Faculté de médecine La Timone, Marseille, France
    Neurology 55:1188-93. 2000
  4. ncbi request reprint Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)
    Laurent Villard
    INSERM U491, Faculté de médecine La Timone, 27, Bd Jean Moulin, 13385 Marseille Cedex 5, France
    Eur J Hum Genet 10:223-5. 2002
  5. ncbi request reprint [Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model]
    Laurent Villard
    INSERM U 491, Faculté de médecine La Timone, Marseille, France
    Med Sci (Paris) 22:81-3. 2006
  6. ncbi request reprint Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome
    Jean Christophe Roux
    INSERM, U491, Faculte de Medecine de la Timone, Marseille, F 13385, France
    Eur J Neurosci 25:1915-22. 2007
  7. pmc Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model
    Angele Viola
    Centre de Resonance Magnetique Biologique et Medicale, UMR Centre National de la Recherche Scientifique 6612, Universite de la Mediterranee, Faculte de Medecine, Marseille, France
    PLoS ONE 2:e157. 2007
  8. doi request reprint Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway
    Jean Christophe Roux
    INSERM, UMR_S 910, Faculte de Medecine de la Timone, Marseille, F 13385, France
    Neurobiol Dis 45:786-95. 2012
  9. doi request reprint Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse
    Nicolas Panayotis
    INSERM, UMR_S 910, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille, France
    Neurobiol Dis 41:385-97. 2011
  10. ncbi request reprint Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
    Marie Reine Haddad
    INSERM U910, Faculte de Medecine de la Timone, Marseille, France
    Eur J Med Genet 52:211-7. 2009

Collaborators

Detail Information

Publications45

  1. pmc A locus for bilateral perisylvian polymicrogyria maps to Xq28
    Laurent Villard
    INSERM U491, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    Am J Hum Genet 70:1003-8. 2002
    ....
  2. pmc MECP2 mutations in males
    Laurent Villard
    INSERM, U491, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 44:417-23. 2007
    ..The aim of this review is to describe the nature of the MECP2 mutations identified in male patients to date and their associated phenotypes...
  3. ncbi request reprint Two affected boys in a Rett syndrome family: clinical and molecular findings
    L Villard
    INSERM U491, Faculté de médecine La Timone, Marseille, France
    Neurology 55:1188-93. 2000
    ..They both presented with the same condition and died of severe apnea before they were 1 year old. Their sister has a classic form of Rett syndrome...
  4. ncbi request reprint Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032)
    Laurent Villard
    INSERM U491, Faculté de médecine La Timone, 27, Bd Jean Moulin, 13385 Marseille Cedex 5, France
    Eur J Hum Genet 10:223-5. 2002
  5. ncbi request reprint [Noradrenaline deficiency as the origin of respiratory disorders in Rett syndrome an animal model]
    Laurent Villard
    INSERM U 491, Faculté de médecine La Timone, Marseille, France
    Med Sci (Paris) 22:81-3. 2006
  6. ncbi request reprint Treatment with desipramine improves breathing and survival in a mouse model for Rett syndrome
    Jean Christophe Roux
    INSERM, U491, Faculte de Medecine de la Timone, Marseille, F 13385, France
    Eur J Neurosci 25:1915-22. 2007
    ..Our results suggest that a pharmacological stimulation of the noradrenergic system could be a promising approach for the treatment of the respiratory dysfunction which causes a significant proportion of death in RS patients...
  7. pmc Metabolic fingerprints of altered brain growth, osmoregulation and neurotransmission in a Rett syndrome model
    Angele Viola
    Centre de Resonance Magnetique Biologique et Medicale, UMR Centre National de la Recherche Scientifique 6612, Universite de la Mediterranee, Faculte de Medecine, Marseille, France
    PLoS ONE 2:e157. 2007
    ..However, an interdisciplinary approach drawing from chemistry, biology and neuroscience is needed to elucidate the mechanistic links between the genotype and phenotype of this genetic disorder...
  8. doi request reprint Modification of Mecp2 dosage alters axonal transport through the Huntingtin/Hap1 pathway
    Jean Christophe Roux
    INSERM, UMR_S 910, Faculte de Medecine de la Timone, Marseille, F 13385, France
    Neurobiol Dis 45:786-95. 2012
    ..Finally, treating Mecp2-deficient mice with cysteamine, a molecule increasing the secretion of Bdnf vesicles, improved the lifespan and reduced motor defects, suggesting a new therapeutic strategy for Rett syndrome...
  9. doi request reprint Morphological and functional alterations in the substantia nigra pars compacta of the Mecp2-null mouse
    Nicolas Panayotis
    INSERM, UMR_S 910, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille, France
    Neurobiol Dis 41:385-97. 2011
    ..Altogether, our findings demonstrate that Mecp2-deficiency induces nigrostriatal deficits, and they offer a new perspective to better understand the origin of motor dysfunction in RTT...
  10. ncbi request reprint Characterization of a de novo balanced translocation in a patient with moderate mental retardation and dysmorphic features
    Marie Reine Haddad
    INSERM U910, Faculte de Medecine de la Timone, Marseille, France
    Eur J Med Genet 52:211-7. 2009
    ..Our data suggest that FER is not implicated in the mental retardation phenotype observed in the reported patient. Therefore the MR phenotype might not be caused by the translocation...
  11. pmc Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype
    Pierre Cacciagli
    Departement de Genetique Medicale, Hopital d Enfants de la Timone, Marseille, France
    Eur J Hum Genet 18:1360-3. 2010
    ..Extensive screening in the mentally retarded population will be needed to determine if ATP8A2 haploinsufficiency or dysfunction causes a neurological phenotype in humans...
  12. doi request reprint Progressive noradrenergic deficits in the locus coeruleus of Mecp2 deficient mice
    Jean Christophe Roux
    INSERM U910, Faculte de Medecine de la Timone, Marseille, France
    J Neurosci Res 88:1500-9. 2010
    ..In conclusion, our results showing a progressive catecholaminergic deficit in the LC of Mecp2 deficient null male mice could open new perspectives to better understand the autonomic and cognitive deficits due to the lack of Mecp2...
  13. pmc Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus
    Pierre Cacciagli
    INSERM UMR S 910, Faculte de Medecine Timone, Aix Marseille Universite, Marseille, France
    Am J Hum Genet 93:579-86. 2013
    ..These findings provide a molecular basis for a Mendelian syndrome and link intracellular protein trafficking to severe congenital brain dysfunction and deafness. ..
  14. doi request reprint Progressive motor and respiratory metabolism deficits in post-weaning Mecp2-null male mice
    Michel Pratte
    INSERM U910, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, F 13385 Marseille cedex 05, France
    Behav Brain Res 216:313-20. 2011
    ..Subsequently, motor functions and respiratory metabolism are severally impaired. A detailed description of these gradual defects may help to identify their neuronal origin and to elaborate novel therapeutic strategies...
  15. doi request reprint Tyrosine hydroxylase deficit in the chemoafferent and the sympathoadrenergic pathways of the Mecp2 deficient mouse
    Jean Christophe Roux
    INSERM U910, Faculte de Medecine de la Timone, Marseille, France
    Neurosci Lett 447:82-6. 2008
    ..In conclusion, our results offer new insights to better understand the mechanisms leading to autonomic dysfunction in RS...
  16. ncbi request reprint A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype
    Anne Moncla
    Assistance Publique Hopitaux de Marseille, Hopital d Enfants de la Timone, Département de génétique, Marseille, France
    Hum Mutat 28:1183-8. 2007
    ....
  17. ncbi request reprint Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling
    Anne Moncla
    Departement de Genetique Medicale, Hopital d Enfants de la Timone, Marseille, France
    Eur J Hum Genet 10:86-9. 2002
    ..These findings clearly call for a careful consideration of the pathogenicity of the MECP2 mutations identified in sporadic male cases before genetic counselling or prenatal diagnosis is proposed to the corresponding families...
  18. pmc Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease
    L Villard
    INSERM U491, Faculte de Medecine, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 38:435-42. 2001
    ..5% of Rett syndrome cases are sporadic, although several familial cases have been reported. Mutations in the MECP2 gene were identified in approximately 70-80% of sporadic Rett syndrome cases...
  19. pmc AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)
    Pierre Cacciagli
    1 INSERM, U910, Faculte de Medecine de la Timone, Marseille, France 2 Aix Marseille Université, Faculte de Medecine, Marseille, France 3 Assistance Publique Hôpitaux de Marseille, Département de Génétique Médicale et de Biologie Cellulaire, Hopital d Enfants de la Timone, Marseille, France
    Eur J Hum Genet 22:363-8. 2014
    ....
  20. doi request reprint Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy
    Mathieu Milh
    INSERM, U910, Marseille, France
    Hum Mutat 34:869-72. 2013
    ..Here, we describe a familial form of MMPSI due to mutation in TBC1D24, revealing a devastating epileptic phenotype associated with TBC1D24 dysfunction...
  21. pmc Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2
    Mathieu Milh
    INSERM, UMR_S 910 Faculté de médecine, Marseille, France
    Orphanet J Rare Dis 8:80. 2013
    ..Our objective was to confirm that KCNQ2 was an important gene to include in the diagnosis workup of EOEEs and to fully describe the clinical and EEG features of mutated patients...
  22. ncbi request reprint Truncation of NHEJ1 in a patient with polymicrogyria
    Vincent Cantagrel
    INSERM, U491, Faculté de médecine La Timone, Marseille, France
    Hum Mutat 28:356-64. 2007
    ..The association of PMG with the disruption of its transcript suggests that, in addition to its recently uncovered function in the immune system, the NHEJ1 protein may also play a role during development of the human cerebral cortex...
  23. doi request reprint Expression of methyl CpG binding protein 2 (Mecp2) during the postnatal development of the mouse brainstem
    Emmanuelle Dura
    INSERM, U910, Faculte de Medecine de la Timone, 27 Bd Jean Moulin, Marseille, F 13385, France
    Brain Res 1236:176-84. 2008
    ..However, we were not able to correlate the developmental expression of MeCP2 in a given area of the brainstem with autonomic dysfunctions occurring in the presence of a mutation in Mecp2...
  24. ncbi request reprint Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia
    Cecile Mignon-Ravix
    J Med Genet 47:132-6. 2010
    ..A significant proportion of these malformations could have a genetic basis. However, genetic studies are limited because most cases are sporadic and mendelian forms are rare...
  25. ncbi request reprint Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
    J Gecz
    INSERM U242, Marseille, France
    Hum Mol Genet 3:39-44. 1994
    ..Among the different morbid phenotypes assigned to the region, X-linked mental retardation would be the best candidate to be associated with this gene...
  26. ncbi request reprint Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase
    L Villard
    Génétique Médicale et Développement, Faculte de Medecine de la Timone, INSERM U 406, Marseille, France
    Genomics 43:149-55. 1997
    ..It suggests that mutations will be predominantly found in the helicase region as well as in the zinc finger regions and leads us to propose a large screening of additional patients...
  27. ncbi request reprint Characterization of xnp-1, a Caenorhabditis elegans gene similar to the human XNP/ATR-X gene
    L Villard
    INSERM U491, Faculté de médecine La Timone, 27 Bd Jean Moulin, 13385, Marseille Cedex 5, France
    Gene 236:13-9. 1999
    ..These data indicate that xnp-1 and XNP/ATR-X have diverged from the same ancestral DNA helicase gene and may therefore have conserved similar functions at the cellular level...
  28. pmc GABA and glutamate pathways are spatially and developmentally affected in the brain of Mecp2-deficient mice
    Rita El-Khoury
    Aix Marseille Universite, GMGF, Marseille, France INSERM, UMR_S 910, Marseille, France
    PLoS ONE 9:e92169. 2014
    ..Our results confirm that RTT mouse present a deficit in the GABAergic pathway and suggest that GABAergic modulators could be interesting therapeutic agents for this severe neurological disorder. ..
  29. doi request reprint Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations
    Mathieu Milh
    APHM, CINAPSE, Pediatric Neurology Department, Timone Children Hospital, Marseille, France
    Epilepsia 52:1828-34. 2011
    ..To refine the phenotype associated with STXBP1 aberrations in early onset epileptic syndromes, we studied this gene in a cohort of patients with early onset epileptic encephalopathy...
  30. doi request reprint Biogenic amines in Rett syndrome: the usual suspects
    Jean Christophe Roux
    INSERM, U910, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
    Behav Genet 40:59-75. 2010
    ..Given our current knowledge and the tools available, modulating biogenic amine metabolism may prove to be the most promising strategy for improving the life quality of Rett syndrome patients in the short term...
  31. ncbi request reprint Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation
    Vincent Cantagrel
    INSERM, U910, , Marseille, , , Marseille, France
    Gene Expr Patterns 9:423-9. 2009
    ..After P3, the expression of Kiaa2022 decreases and maintains very low levels thereafter. Our results show that Kiaa2022 is expressed in the developing brain and that it may play a role in postmitotic, maturing neurons...
  32. ncbi request reprint A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia
    L Villard
    INSERM U406 Genétique Médicale et Développement, Faculte de Medecine de la Timone, Marseille, France
    Eur J Hum Genet 4:316-20. 1996
    ..In this paper, we report a mutation in XNP, segregating in a family presenting an "ATR-X' phenotype without alpha-thalassemia, that causes a proline to serine transition in the helicase II domain...
  33. ncbi request reprint Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
    C Cardoso
    Unit INSERM U406, Génétique Médicale et Développement, Faculte de Medecine de la Timone, 27 Boulevard Jean Moulin, 13385 Marseille Cedex 05, France
    Hum Mol Genet 7:679-84. 1998
    ..We found a specific interaction between the XNP and the EZH2 proteins. In light of these observations, we discuss how the XNP protein may regulate gene transcription at the chromatin level...
  34. ncbi request reprint Molecular characterization of a new human T-box gene (TBX22) located in xq21.1 encoding a protein containing a truncated T-domain
    F Laugier-Anfossi
    Inserm Unité 491, Faculté de médecine La Timone, 27 Bd Jean Moulin, 13385 Cedex 5, Marseille, France
    Gene 255:289-96. 2000
    ..These data indicate that TBX22 may be the first identified member of a new family of T-domain-containing proteins...
  35. ncbi request reprint Brain magnetic resonance study of Mecp2 deletion effects on anatomy and metabolism
    Véronique Saywell
    INSERM U491, Faculté de médecine La Timone, Marseille, France
    Biochem Biophys Res Commun 340:776-83. 2006
    ..Furthermore, we uncovered an important reduction of brain ATP level, a hitherto undetected anomaly of energy metabolism that may reflect and contribute to cerebral injury and dysfunction...
  36. pmc Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome
    L Villard
    INSERM U491, Faculté de médecine La Timone, Universite de la Mediterranee, Marseille, France
    J Med Genet 36:183-6. 1999
    ..This approach is simple, does not require RNA preparation, does not involve time consuming mutation detection methods, and can thus be applied to a large number of patients at a low cost in any given laboratory...
  37. ncbi request reprint Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28
    L Villard
    INSERM U491, Universite de la Mediterrannee, Faculté de médecine La Timone, Marseille, France
    Eur J Hum Genet 8:125-9. 2000
    ..Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families...
  38. ncbi request reprint Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families
    B Chabrol
    Department of Paediatric Neurology, Hopital d Enfants de la Timone, Marseille, France
    Am J Med Genet A 138:314-7. 2005
    ..In addition, affected males display facial similarities that can help the diagnosis. Most carrier females have mild mental retardation and subtle facial changes...
  39. ncbi request reprint Transcript map of the human chromosome Xq11-Xq21 region: localization of 33 novel genes and one pseudogene
    L Villard
    INSERM U491, Génétique Médicale et Développement, Faculte de Medecine de la Timone, Université de la Méditerranée Marseille, 27 Bd Jean Moulin, 13385, Marseille Cedex 5, France
    Gene 235:43-50. 1999
    ..This transcriptional map incorporates 51 transcription units and provides a useful resource of candidate genes for some of the disorders assigned to this region of the X chromosome...
  40. pmc Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation
    A M Lossi
    INSERM U491, Faculté de médecine La Timone, 27 Bd Jean Moulin, 13385 Marseille Cedex 5, France
    J Med Genet 39:113-7. 2002
    ..Mutation screening of probands from 20 unrelated XLMR families linked to the proximal short arm of the human X chromosome failed to show any mutation in the coding region of the KLF8 gene...
  41. ncbi request reprint Spectrum of MECP2 mutations in Rett syndrome
    Thierry Bienvenu
    INSERM U129 ICGM, Faculté de Médecine Cochin, 75014 Paris, France
    Genet Test 6:1-6. 2002
    ..These data demonstrate the high allelic heterogeneity of RTT in France and provide information relevant to the development of strategies for molecular diagnosis and genetic counseling in RTT families...
  42. ncbi request reprint The incidence of Rett syndrome in France
    Thierry Bienvenu
    University Paris 5, Cochin Institute, INSERM U567, Centre National de la Recherche Scientifique Unitré Mixte de Reserche 8104, Paris, France
    Pediatr Neurol 34:372-5. 2006
    ..Given that this is a minimum incidence because complete inventory was not possible, this study of patients with Rett syndrome reinforces the fact that the great majority of patients with Rett syndrome have a MECP2 mutation...
  43. ncbi request reprint Mecp2 deficiency disrupts norepinephrine and respiratory systems in mice
    Jean Charles Viemari
    Department of Organismal Biology and Anatomy, The University of Chicago, Chicago, Illinois 60637, USA
    J Neurosci 25:11521-30. 2005
    ..We hypothesize that breathing disturbances in Mecp2-/y mice, and probably Rett patients, originate in part from a deficiency in noradrenergic and serotonergic modulation of the medullary respiratory network...
  44. ncbi request reprint [Pharmacological treatment of Rett syndrome improves breathing and survival in a mouse model]
    Jean Christophe Roux
    Med Sci (Paris) 23:805-7. 2007
  45. ncbi request reprint Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients
    Claire Braybrook
    Institute of Reproductive and Developmental Biology, Imperial College Faculty of Medicine Hammersmith Campus, Du Cane Road, London W12 ONN, UK
    Hum Mol Genet 11:2793-804. 2002
    ..We conclude that expression of TBX22 is entirely consistent with the CPX phenotype and that the mouse should provide a useful model for elucidating its role in craniofacial development...