A new cohort of MECP2 mutation screening in unexplained mental retardation: careful re-evaluation is the best indicator for molecular diagnosis.
نویسندگان
چکیده
Anne Donzel-Javouhey, Christel Thauvin-Robinet, Veronica Cusin, Nathalie Madinier, Eric Manceau, Dominique Dipanda, Véronique Dulieu, Francine Mugneret, Frédéric Huet, Jean-Raymond Teyssier, and Laurence Faivre* Département de Génétique, Faculté de Médecine et CHU de Dijon, France Service de Pédiatrie, Hôpital d’Enfants, CHU Dijon, France Service de Pédopsychiatrie, Hôpital d’Enfants, CHU Dijon, France Service de rééducation fonctionnelle, Hôpital d’Enfants, CHU Dijon, France
منابع مشابه
MECP2 is highly mutated in X-linked mental retardation.
Following the recent discovery that the methyl-CpG binding protein 2 (MECP2) gene located on Xq28 is involved in Rett syndrome (RTT), a wild spectrum of phenotypes, including mental handicap, has been shown to be associated with mutations in MECP2. These findings, with the compelling genetic evidence suggesting the presence in Xq28 of additional genes besides RabGDI1 and FMR2 involved in non-sp...
متن کاملScreening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
Rett syndrome (RTT) is an X-linked progressive encephalopathy. Mutations in the MECP2 (methyl-CpG-binding protein) gene have been found to cause RTT. In the past few years, the role of MECP2 mutations in patients with mental disorders other than RTT has been studied, finding that mutations in MECP2 also contribute to non-syndromic entities. More recently, it has been demonstrated that RTT share...
متن کاملMECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
Mutations in the methyl-CpG-binding protein 2 (MECP2) gene located on Xq28, cause Rett syndrome (RTT) in female patients. Meanwhile, nonmosaic MECP2 mutations unknown in girls have been found in an increasing number of male patients with a normal 46, XY karyotype. They can cause a broad spectrum of neurodevelopmental disorders which often show a combination of mental retardation (MR) with neuro...
متن کاملMolecular study of a consanguineous family with autosomal recessive mental retardation and speech disorder
Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...
متن کاملDrosophila as a Model for MECP2 Gain of Function in Neurons
Methyl-CpG-binding protein 2 (MECP2) is a multi-functional regulator of gene expression. In humans loss of MECP2 function causes classic Rett syndrome, but gain of MECP2 function also causes mental retardation. Although mouse models provide valuable insight into Mecp2 gain and loss of function, the identification of MECP2 genetic targets and interactors remains time intensive and complicated. T...
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ورودعنوان ژورنال:
- American journal of medical genetics. Part A
دوره 140 14 شماره
صفحات -
تاریخ انتشار 2006