Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

Abstract

Orofaciodigital syndrome type 1 or oral–facial–digital syndrome type 1 (OFDS1, OMIM #311200) is an X-linked malformation syndrome caused by hemizygous mutations in the OFD1 (OMIM #300170) gene with presumed male lethality. Recently males with OFDS1 and mutations in OFD1 have been described. We report a 17-year-old male with molar tooth sign, small cerebellum with absence of the cerebellar vermis, complex polydactyly with a Y-shaped metacarpal, renal failure and craniofacial anomalies caused by a novel splice-mutation (c.1129+4A>T) in the OFD1 gene identified by exome sequencing.

DOI: 10.1038/hgv.2015.69

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Cite this paper

@inproceedings{Wentzensen2016ExomeSI, title={Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly}, author={Ingrid M. Wentzensen and Jennifer J Johnston and John H Patton and John M. Graham and Julie Chevalier Sapp and Barbara B Biesecker}, booktitle={Human Genome Variation}, year={2016} }