Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Conclusions: We suggest that microdeletions of this region on chromosome 9q cause a clinical spectrum including intellectual disability, developmental delay especially concerning speech, microcephaly, short stature, mild dysmorphisms, strabismus, and seizures of incomplete penetrance, and may constitute a new contiguous gene deletion syndrome which cannot completely be explained by deletion of STXBP1.

http://www.molecularcytogenetics.org/content/8/1/72

Source: Molecular Cytogenetics - September 29, 2015 Category: Molecular Biology Authors: Julia EhretHartmut EngelsKirsten CremerJessica BeckerJohannes ZimmermannEva WohlleberUte GrasshoffEva RossierMichael BoninElisabeth MangoldAndrea BevotStefanie SchönStefanie Heilmann-HeimbachNicola DennertMichèle Mathieu-DramardElodie LacazeGhislaine Pl Source Type: research