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The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males

✍ Scribed by Jussara Mendonça dos Santos; Cláudia Bueno Abdalla; Mário Campos Jr.; Cíntia Barros Santos-Rebouças; Márcia Mattos Gonçalves Pimentel

Book ID
116767459
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
64 KB
Volume
379
Category
Article
ISSN
0304-3940

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Identification of a family with nonspeci
Identification of a family with nonspecific mental retardation (MRX79) with the A140V mutation in the MECP2 gene: Is there a need for routine screening?
✍ Birgitta Winnepenninckx; Vanessa Errijgers; France Hayez-Delatte; Edwin Reyniers 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB

Mutations in the methyl-CpG-binding protein 2 (MECP2) cause Rett syndrome, a severe neurodevelopmental disorder occurring predominantly in females. Male patients with Rett syndrome are extremely rare, as the Rett-causing mutations in the MECP2 gene are usually lethal in hemizygous males. However, di