title: 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.
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health, Bethesda, MD, USA; McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD, USA.
authors.forename: Ingrid M
authors.initials: IM
authors.lastname: Wentzensen
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Johnston
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: John H
authors.initials: JH
authors.lastname: Patton
authors.affiliation: Cedars Sinai Medical Center, Institute of Medical Genetics, University of California , Los Angeles, CA, USA.
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Julie C
authors.initials: JC
authors.lastname: Sapp
authors.affiliation: Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
authors.forename: Leslie G
authors.identifier: 0000-0002-0197-3811
authors.initials: LG
authors.lastname: Biesecker