A syndactyly type IV locus maps to 7q36

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• 作者：Daisuke Sato ; Desheng Liang ; Lingqian Wu ; Qian Pan ; Kun Xia ; Heping Dai ; Hua Wang ; Gen Nishimura ; Koh-Ichiro Yoshiura and Jiahui Xia ; et al.
• 关键词：Syndactyly type IV ; Linkage analysis ; Disease gene mapping
• 刊名：Journal of Human Genetics
• 出版年：2007
• 出版时间：June, 2007
• 年：2007
• 卷：52
• 期：6
• 页码：561-564
• 全文大小：189 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Cancer Research
  Cell Biology
  Immunology
  Neurosciences
  
• 出版者：Springer Japan
• ISSN：1435-232X

文摘

Syndactyly occurs as an isolated abnormality or a part of a malformation syndrome. Syndactyly types I, II, III and V have been mapped to chromosomal regions 2q34–q36, 2q31–q32, 6q21–q23.2 and 2q31–q32, respectively, whereas syndactyly type IV (SD4) is extremely rare, and its gene localization has not yet been assigned. The SD4 manifests complete syndactyly of all fingers accompanied with polydactyly, and flexion of the fingers gives the hand a cup-shaped appearance. We performed a linkage and haplotype analysis of a Chinese pedigree with autosomal dominant, non-syndromic SD4 using a set of 406 microsatellite markers. The analysis gave the maximum two-point LOD score of 1.613 at recombination fraction of 0.00 and penetrance of 1.00. Thus, the SD4 locus in the family was likely assigned to a 17.39-cM region at a segment between markers D7S3070 and D7S559 at 7q36, although the LOD score obtained was not high enough to conclude the localization. Analysis of three candidate genes, LMBR1, SHH and ZRS, failed to identify any pathogenic mutations. Our gene mapping may give a clue to identify the putative SD4 gene and provide a better understanding of normal human limb development.