title: Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
abstract: Numerous recent reports have proposed that mutations in the C-terminal domain of the MECP2 gene could be a frequent cause of mental retardation in males. We have identified two mutations in this particular domain (S359P and E397K) in two boys who were screened for MECP2 mutations in a series of 23 mentally handicapped boys fitting the clinical description of the previously reported cases. A detailed familial study based on three generations shows that the first mutation (S359P) was also inherited by a healthy cousin thus ruling out its involvement in the etiology of the phenotype of this patient. The second mutation (E397K) was also found in normal individuals. 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.
authors.affiliation: Département de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France. amoncla@ap-hm.fr
authors.forename: Anne
authors.initials: A
authors.lastname: Moncla
authors.forename: Arlette
authors.initials: A
authors.lastname: Kpebe
authors.forename: Chantal
authors.initials: C
authors.lastname: Missirian
authors.forename: Josette
authors.initials: J
authors.lastname: Mancini
authors.forename: Laurent
authors.initials: L
authors.lastname: Villard
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics; D002648:Child; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051783:Methyl-CpG-Binding Protein 2; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D019989:Persons with Intellectual Disabilities; D011110:Polymorphism, Genetic; D012097:Repressor Proteins
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2; D012097:Repressor Proteins