title: Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.
abstract: Rett syndrome is a severe X-linked dominant neurodevelopmental disorder. Mutations in the MECP2 gene on chromosome Xq28 have been shown to be the cause of Rett syndrome. Sequencing of the MECP2 gene in a patient with clinical suspicion of Rett syndrome revealed c.1160C>T (P387L) in exon 4 of the MECP2 gene homozygously. Females with Rett syndrome are usually heterozygous for a mutation in MECP2. Uniparental disomy as a probable cause for the homozygous presence of this mutation was ruled out by quantitative fluorescence-polymerase chain reaction. Moreover to our knowledge this mutation has only been reported in males with X-linked mental retardation (MRX). We hypothesize that the presence of this mutation c.1160C>T (P387L) in the homozygous form is responsible for the Rett syndrome-like phenotype seen in this patient. This novel report reveals for the first time the homozygous presence of a mutation which has hitherto only been reported in males with MRX.
authors.affiliation: Research and Development, SRL Ltd, Prime Square Building, Plot No 1, S. V. Road, Goregaon (W), Mumbai 400 062, India.
authors.forename: Aparna A
authors.initials: AA
authors.lastname: Bhanushali
authors.affiliation: Research and Development, SRL Ltd, Prime Square Building, Plot No 1, S. V. Road, Goregaon (W), Mumbai 400 062, India.
authors.forename: A
authors.initials: A
authors.lastname: Mandsaurwala
authors.affiliation: Research and Development, SRL Ltd, Prime Square Building, Plot No 1, S. V. Road, Goregaon (W), Mumbai 400 062, India. Electronic address: brdas@srl.in.
authors.forename: Bibhu R
authors.initials: BR
authors.lastname: Das
mesh_terms: D005260:Female; D005838:Genotype; D006801:Humans; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2
keywords: MECP2 gene; Mutation analysis; QF-PCR; Rett syndrome; Sequencing