Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

Members of the Sos gene family encode transcription factors that have diver se and important functions during development. We have recently described t he cloning of chick and mouse Sox14 and the expression of these genes in a population of ventral interneurons in the embryonic spinal cord. We report here the cloning and sequencing of the human orthologue of Sox14. Human SOX 14 shows remarkable sequence conservation compared with orthologues from ot her vertebrate species and probably mirrors the expression of these genes i n the developing brain and spinal cord, Using radiation hybrid mapping and fluorescence in situ hybridisation, we have localised SOX14 close to the se quence tagged site D3SI576 on human chromosome 3q23. Thr ee congenital diso rders have been localised to this region: blepharophimosis-ptosis-epicanthu s inversus syndrome (BPES), Charcot-Maric-Tooth neuropathy type IIB (CMT2B) and Mobius syndrome type 2 (MBS2). We have found that SOX14 is unlikely to be involved in any of these disorders because of the position of SOX14 pro ximal to a BPES breakpoint and the lack of SOX14 coding region alterations in BPES, CMT2B and MBS2 patients.