title: A novel MECP2 change in an indian boy with variant rett phenotype and congenital blindness: implications for genetic counseling and prenatal diagnosis.
abstract: Mutations in MECP2 gene are the primary cause of Rett syndrome, a neurodevelopmental disorder that primarily affects girls, and affect 90% to 95% patients with classical Rett syndrome. MECP2 mutations, once thought to be lethal in males, now present a broad spectrum of clinical manifestations in males. This article reports a family with a 9-year-old boy with Rett-like phenotype and congenital blindness, who inherited a novel MECP2 variant (p.P430S) from his asymptomatic mother. The variant was also identified in the asymptomatic maternal grandfather and maternal aunts of the proband, ruling out the possibility that the p.P430S was involved in the phenotype. Findings of the study suggest that a careful evaluation of the pathogenic nature of MECP2 variants identified in males be conducted before proposing genetic counseling or prenatal diagnosis to the family and that the interference of other factors like modifier genes, environment, epigenetics, and mosaicism be taken into account.
authors.affiliation: Genetics Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
authors.forename: Rajni
authors.initials: R
authors.lastname: Khajuria
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Savita
authors.initials: S
authors.lastname: Sapra
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Manju
authors.initials: M
authors.lastname: Ghosh
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
mesh_terms: D001766:Blindness / Q000151:congenital / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2