Wang Bo, Li Niu, Geng Juan, Wang Zhigang, Fu Qihua, Wang Jian, Xu Yunlan
Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Congenit Anom (Kyoto). 2017 Jan;57(1):4-7. doi: 10.1111/cga.12173.
Synpolydactyly (SPD) is an autosomal dominant limb malformation with a distinctive combination of syndactyly and polydactyly. SPD is clinically heterogeneous and could be genetically classified into three types. The clinical phenotype of SPD is complicated by its variable expressivity. In the present study, whole exome sequencing (WES) was used to identify the affected gene(s) in a Chinese family with atypical SPD phenotype. Our results showed that a novel heterogenous nonsense mutation (c.556C > T, p.R186X) in HOXD13 was associated with this SPD case. Due to variable expressivity, the diagnosis of a clinical heterogenous disease such as SPD is usually difficult. Our results also suggested that WES is an efficient tool to assist with these diagnoses.
多指（趾）并指（趾）畸形（SPD）是一种常染色体显性肢体畸形，具有并指（趾）和多指（趾）的独特组合。SPD在临床上具有异质性，可在遗传学上分为三种类型。SPD的临床表型因其可变表达性而变得复杂。在本研究中，采用全外显子组测序（WES）来鉴定一个具有非典型SPD表型的中国家系中的致病基因。我们的结果表明，HOXD13基因中一个新的异质性无义突变（c.556C＞T，p.R186X）与该SPD病例相关。由于表达性可变，像SPD这样的临床异质性疾病的诊断通常很困难。我们的结果还表明，WES是协助这些诊断的有效工具。
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