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Distinct De Novo deletions in a brother–sister pair with RTT: A case report
Author(s) -
Mittal Kirti,
Gupta Neerja,
Kabra Madhulika,
Juyal Ramesh,
Thelma B.K.
Publication year - 2011
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.31222
Subject(s) - mecp2 , rett syndrome , genetics , sister , brother , phenotype , biology , etiology , neurodevelopmental disorder , gene , mutation , medicine , psychiatry , sociology , anthropology
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. © 2011 Wiley‐Liss, Inc.