title: Distinct de novo deletions in a brother-sister pair with RTT: a case report.
abstract: Rett syndrome (RTT), a neurodevelopmental disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein2 (MeCP2), is a leading cause of mental retardation in females. Majority of cases are sporadic (99%) but some familial cases have also been observed. We describe a familial study with a brother-sister pair with symptoms of RTT and exhibiting distinct deletions in the MECP2. The non-shared de novo deletion in the two sibs provides important insights into the disease etiology, especially for male sibs showing varied phenotypes as compared to the classical ones seen in the females.
authors.affiliation: Department of Genetics, University of Delhi South Campus, India.
authors.forename: Kirti
authors.initials: K
authors.lastname: Mittal
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Ramesh
authors.initials: R
authors.lastname: Juyal
authors.forename: B K
authors.initials: BK
authors.lastname: Thelma
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D010641:Phenotype; D015518:Rett Syndrome / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D035781:Siblings; D055815:Young Adult
chemical_list: C497392:MECP2 protein, human; D051783:Methyl-CpG-Binding Protein 2