外显子组测序在一名患有Joubert综合征、口面指综合征谱系异常和复杂性多指（趾）畸形的男性中鉴定出OFD1基因的一个突变。
Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly.
作者信息
Wentzensen Ingrid M, Johnston Jennifer J, Patton John H, Graham John M, Sapp Julie C, Biesecker Leslie G
机构信息
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.
Medical Genomics and Metabolic Genetics Branch, National Human Research Institute, National Institutes of Health , Bethesda, MD, USA.
出版信息
Hum Genome Var. 2016 Feb 4;3:15069. doi: 10.1038/hgv.2015.69. eCollection 2016.
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.
1型口面指综合征或口腔-面部-指综合征1型（OFDS1，OMIM #311200）是一种X连锁畸形综合征，由OFD1（OMIM #300170）基因的半合子突变引起，推测男性致死。最近，已有关于患有OFDS1且OFD1基因发生突变的男性的报道。我们报告了一名17岁男性，他具有磨牙征、小脑小且小脑蚓部缺如、伴有Y形掌骨的复杂多指畸形、肾衰竭以及颅面畸形，这些是由外显子测序鉴定出的OFD1基因中的一种新型剪接突变（c.1129+4A>T）所致。
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