Three Siblings with Aarskog Scott Syndrome Together with Mental Retardation and Giant Megacolon
We found a new candidate disease-causing gene in 3 siblings who have Aarskog-Scott syndrome together with mental retardation and megacolon. Using exome analysis, ZFHX3, which has been reported to be associated with Hirschsprung disease, was identified as a candidate causative gene for their disease (mutations c.G756A:p.A2521T and c.G4428A:p.M1476I). In silico analysis suggested that A2521T was a functionally damaging mutation. Mice with a frame shift mutation in ZFHX3 were fetal lethal. Mice wi...
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