Article
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
Human genetics - 1 Jan 2009
Daoud Hussein, Gruchy Nicolas, Constans Jean-Marc, Moussaoui Edgar, Saumureau Simone, Bayou Nadia, Amy Maïté, Védrine Sylviane, Vu Phi Yen, Rötig Agnès, Laumonnier Frédéric, Vourc'h Patrick, Andres Christian R, Leporrier Nathalie, Briault Sylvain
Abstract excerpt
We have investigated the chromosome abnormalities in a female patient exhibiting mild nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal translocation 46,XX,t(2;7)(q24.1;q36.1). Physical mapping of the breakpoints by fluorescent in situ hybridization experiments revealed the disruption of the GPD2 gene at the 2q24.1 region. This gene encodes the mitochondrial glycerophosphate...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.