Advances in the Molecular Genetics of Non-syndromic Syndactyly.
Advances in the Molecular Genetics of Non-syndromic Syndactyly.
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DOI：
10.2174/1389202916666150317233103
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发表时间：
2015-06
期刊：
影响因子：
2.6
通讯作者：
Tan T
中科院分区：
文献类型：
--
作者：
Deng H;Tan T
并指，即相邻手指有或没有骨融合的蹼状，是最常见的遗传性肢体畸形之一。它要么作为孤立的异常，要么作为 300 多种综合征异常的组成部分发生。目前有九种表型多样的非综合征性并指症。非综合征性并趾畸形通常作为常染色体显性遗传，但更严重的表现类型和亚型可能显示常染色体隐性或 X 连锁遗传模式。表型似乎不仅由主要基因引起，而且还取决于遗传背景和随后参与肢体形成的信号通路。迄今为止，已确定的与先天性并指有关的主要基因主要涉及极化活动区和声波刺猬通路。本文综述了分子遗传学的最新进展，包括已知的非综合征性并趾畸形的基因和位点、这些遗传因素所涉及的信号通路、临床特征和动物模型。我们希望我们的综述将有助于了解这种复杂疾病的潜在发病机制，并对遗传咨询产生影响。
Syndactyly, webbing of adjacent digits with or without bony fusion, is one of the most common hereditary limb malformations. It occurs either as an isolated abnormality or as a component of more than 300 syndromic anomalies. There are currently nine types of phenotypically diverse nonsyndromic syndactyly. Non-syndromic syndactyly is usually inherited as an autosomal dominant trait, although the more severe presenting types and subtypes may show autosomal recessive or X-linked pattern of inheritance. The phenotype appears to be not only caused by a main gene, but also dependant on genetic background and subsequent signaling pathways involved in limb formation. So far, the principal genes identified to be involved in congenital syndactyly are mainly involved in the zone of polarizing activity and sonic hedgehog pathway. This review summarizes the recent progress made in the molecular genetics, including known genes and loci responsible for non-syndromic syndactyly, and the signaling pathways those genetic factors involved in, as well as clinical features and animal models. We hope our review will contribute to the understanding of underlying pathogenesis of this complicated disorder and have implication on genetic counseling.
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作者：
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