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

Ingrid M. Wentzensen | Zendy; Jennifer J. Johnston | Zendy; John H. Patton | Zendy; John M. Graham | Zendy; Julie C. Sapp | Zendy; Leslie G. Biesecker | Zendy

Open Access

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

Author(s) -

Ingrid M. Wentzensen,

Jennifer J. Johnston,

John H. Patton,

John M. Graham,

Julie C. Sapp,

Leslie G. Biesecker

Publication year - 2016

Publication title -

human genome variation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.796

H-Index - 14

ISSN - 2054-345X

DOI - 10.1038/hgv.2015.69

Subject(s) - polydactyly , joubert syndrome , exome sequencing , cerebellar vermis , craniofacial , genetics , mutation , syndactyly , biology , medicine , cerebellum , gene , neuroscience

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.

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