短指/趾的分子遗传学研究进展

doi:10.3724/SP.J.1005.2012.01522

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HEREDITAS ›› 2012, Vol. 34 ›› Issue (12): 1522-1528.doi: 10.3724/SP.J.1005.2012.01522

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Advances in the molecular genetics of brachydactyly

GUO Yi^1,2, LIANG Hui¹, DENG Hao¹

1. Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, China 2. Department of Medical Information, Xiangya Medical School, Central South University, Changsha 410013, China

Received:2012-04-18 Revised:2012-05-15 Online:2012-12-20 Published:2012-12-25

Abstract

Abstract: Brachydactyly (BD) is a general term that refers to shortening of the hands/feet due to small or missing metacarpals/metatarsalsand/or phalanges, and forms part of the group of limb malformations characterized by bone dy-sostosis. It may occur either as an isolated trait or as part of a syndrome. BD may also be accompanied by other hand mal-formations, such as syndactyly, polydactyly, reduction defects, and symphalangism. In isolated brachydactyly, the inheri-tance is mostly autosomal dominant with variable expressivity and penetrtance. For the majority of isolated BD and some syndromic forms of BD, the causative gene defect has been identified. These studies have shown that the bone morphoge-netic protein (BMP) pathway plays a pivotal role in the normal development of digits and joints and that the majority of brachydactyly disease genes are directly or indirectly linked to this pathway. This review summarizes the progress in the molecular genetics of BD, which will contribute to the BD pathogenic mechanism and implementation of genetic clinic.

Key words: brachydactyly, bone dysostosis, molecular genetics

GUO Yi LIANG Hui DENG Hao. Advances in the molecular genetics of brachydactyly[J]. HEREDITAS, 2012, 34(12): 1522-1528.

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