HOXD13 同源域中的一个新的非同义突变导致一个中国家族的并指（趾）畸形。
A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.
机构信息
Graduate School, Peking Union Medical College, Beijing, China.
出版信息
Clin Chim Acta. 2012 Jul 11;413(13-14):1049-52. doi: 10.1016/j.cca.2012.02.015. Epub 2012 Feb 22.
PURPOSE
The 5' HoxD genes and their paralogs in the HoxD cluster are crucial for normal vertebrate limb development. Mutations in HOXD13 and HOXD13 have been found to cause human limb malformation. Here we describe a two-generation Chinese family with a variant form of mild synpolydactyly.
METHODS
Sequence analysis of HOXD13 gene in a two-generation Chinese family with six individuals.
RESULTS
Gene scan and linkage analysis suggested that HOXD13 might be responsible for the disease of this family. An LOD around 1.8 was observed at three markers (P=2E(-3)). We identified a novel c.893G>A (p.Arg298Gln) mutation in the HOXD13 homeodomain. And the mutation affected the transcriptional activation ability of HOXD13.
CONCLUSION
This finding expands the phenotypic spectrum associated with HOXD13 mutations and advances our understanding of human limb development.
目的
5' HoxD 基因及其在 HoxD 簇中的同源基因对于正常的脊椎动物肢体发育至关重要。HOXD13 和 HOXD13 的突变已被发现可导致人类肢体畸形。本文描述了一个具有轻度并指畸形的中国两代表亲家族。
方法
对一个具有六名个体的中国两代表亲家族的 HOXD13 基因进行序列分析。
结果
基因扫描和连锁分析提示 HOXD13 可能是该家族疾病的致病基因。在三个标记物（P=2E(-3)）处观察到约 1.8 的 LOD。我们在 HOXD13 同源域中发现了一个新的 c.893G>A（p.Arg298Gln）突变。该突变影响了 HOXD13 的转录激活能力。
结论
该发现扩展了与 HOXD13 突变相关的表型谱，并加深了我们对人类肢体发育的理解。
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