An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family

作者：Wang, Bin; Diao, Yutao; Liu, Qiji; An, Hongqiang; Ma, Ruiping; Jiang, Guosheng; Lai, Nannan; Li, Ziwei; Zhu, Xiaoxiao; Zhao, Lin; Guo, Qiang; Zhang, Zhen; Sun, Rong; Li, Xia^*

来源：Scientific Reports, 2016, 6(1): 38500.

DOI：10.1038/srep38500

• SYNDACTYLY TYPE-IV
• THUMB-POLYSYNDACTYLY SYNDROME
• RANGE SHH ENHANCER
• TRIPHALANGEAL THUMB
• LONG-RANGE
• DEVELOPING LIMB
• SONIC-HEDGEHOG
• EXPRESSION
• MUTATIONS
• GENE

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.

• 出版日期2016-12-6
• 单位山东中医药大学; 山东省千佛山医院; 复旦大学; 山东省医学科学院; 山东大学; 山东省中医药研究院