Article
Distinct de novo deletions in a brother-sister pair with RTT: a case report.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 1 Dec 2011
Mittal Kirti, Gupta Neerja, Kabra Madhulika, Juyal Ramesh, Thelma B K
Abstract excerpt
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...
Topics
- Adult
- DNA Mutational Analysis
- Female
- Gene Dosage
- Gene Rearrangement
- Humans
- Infant
- Male
- Methyl-CpG-Binding Protein 2
- Phenotype
- Rett Syndrome
- Sequence Deletion
- Siblings
- Young Adult