Department of peripheral vascular disease, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, 42 Wenhua xi Road, Jinan 250011, Shandong, China.
Key Laboratory for Rare &Uncommon diseases of Shandong province, Institute of Basic Medicine, Shandong Academy of Medical Sciences, 18877 Jingshi Road, Jinan 250062, Shandong, China.
Sci Rep. 2016 Dec 6;6:38500. doi: 10.1038/srep38500.
Preaxial polydactyly (PPD) is inherited in an autosomal dominant fashion and characterized by the presence of one or more supernumerary digits on the thumb side. It had been identified that point mutation or genomic duplications of the long-range limb-specific cis-regulator - zone of polarizing activity regulatory sequence (ZRS) cause PPD or other limb deformities such as syndactyly type IV (SD4) and Triphalangeal thumb-polysyndactyly syndrome (TPTPS). Most previously reported cases involved with no more than one extra finger; however, the role of the point mutation or genomic duplications of ZRS in the case of more than one redundant finger polydactyly remains unclear. In this article, we reported a family case of more than one redundant finger polydactyly on the thumb side for bilateral hands with a pedigree chart of the family. Results of quantitative PCR (qPCR) and sequence analysis suggested that the relative copy number (RCN) of ZRS but not point mutation (including insertion and deletion) was involved in all affected individuals.
桡侧多指（PPD）呈常染色体显性遗传，表现为拇指侧有一个或多个额外的数字。已经确定，长距离肢体特异性顺式调节因子 - 极化活性调节序列（ZRS）的点突变或基因组重复导致 PPD 或其他肢体畸形，如并指型 IV（SD4）和三指拇指多指并指综合征（TPTPS）。以前报道的大多数病例涉及的额外手指不超过一个；然而，ZRS 的点突变或基因组重复在一个以上冗余手指多指畸形中的作用尚不清楚。在本文中，我们报道了一个双侧手部拇指侧有一个以上冗余手指多指畸形的家族病例，并绘制了家族系谱图。定量 PCR（qPCR）和序列分析的结果表明，ZRS 的相对拷贝数（RCN）而非点突变（包括插入和缺失）与所有受影响的个体有关。
