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首页> 外文期刊>American journal of medical genetics, Part A >A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly
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A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly

机译：Balochi部落家庭中的一种新的ZRS突变，具有三趾拇指，前多指，后多指和连

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摘要

Limb malformations are one of the most common types of human congenital malformations. Mutations in the ZRS enhancer of Sonic Hedgehog are thought to be responsible for pre-axial polydactyly in multiple independent families. Here, we describe a large Balochi tribal family from Southern Punjab, Pakistan, with a variable set of limb malformations and a novel ZRS mutation. The family has a limb phenotype characterized by triphalangeal thumb, pre-axial polydactyly, and post-axial polydactyly. There is also a high degree of phenotypic heterogeneity with less common clinical findings in the affected family members that include osseous syndactyly of forth-fifth fingers, clinodactyly, hypoplasia of mesoaxial fingers, and bifid halluces. The presentation in most of the affected patients was bilateral and symmetrical. A heterozygous C>A mutation at position 287 of the ZRS enhancer (chr7:156,584,283; hg19) was detected in all affected subjects and is absent from four unaffected family members, 42 unrelated samples, and multiple databases of human variation. Combined, these results identify a novel ZRS287 C>A mutation which leads to a variable spectrum of limb phenotypes.
机译：肢体畸形是人类先天性畸形的最常见类型之一。 Sonic Hedgehog的ZRS增强子中的突变被认为是多个独立家族中的前轴多指的原因。在这里，我们描述了一个来自巴基斯坦旁遮普邦南部的Balochi部落大家庭，其肢体畸形和新的ZRS突变类型各异。该家族具有四肢表型，其特征在于三趾拇指，前多指和后多指。在受影响的家庭成员中，表型异质性也很高，临床表现较不常见，包括第五个手指的骨性，骨质疏松，中轴手指发育不全和双歧性。大多数受影响患者的表现为双侧和对称的。在所有受影响的受试者中均检测到ZRS增强子第287位的杂合C> A突变（chr7：156,584,283; hg19），但在四个未受影响的家庭成员，42个无关的样本以及多个人类变异数据库中却没有这种突变。结合起来，这些结果确定了新的ZRS287 C> A突变，该突变导致了肢体表型的可变光谱。

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