基因组优先方法通过新型突变检测诊断出卡贝萨斯综合征。
Genome-first approach diagnosed Cabezas syndrome via novel mutation detection.
作者信息
Okamoto Nobuhiko, Watanabe Miki, Naruto Takuya, Matsuda Keiko, Kohmoto Tomohiro, Saito Masako, Masuda Kiyoshi, Imoto Issei
机构信息
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health , Osaka, Japan.
Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University , Tokushima, Japan.
出版信息
Hum Genome Var. 2017 Jan 19;4:16045. doi: 10.1038/hgv.2016.45. eCollection 2017.
Abstract
Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of , thus diagnosing this patient with Cabezas syndrome.
摘要
卡贝萨斯综合征是一种X连锁智力障碍的综合征形式，主要特征为身材矮小、性腺功能减退和步态异常，该基因的突变还会导致其他可变特征。在此，我们报告一名临床未确诊的5岁男性重度智力障碍患者。采用靶向外显子组测序的基因组优先方法，在该基因的最后一个编码外显子中鉴定出一个新的无义突变[NM_003588.3:c.2698G>T, p.(Glu900*)]，从而诊断该患者患有卡贝萨斯综合征。
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