An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family
Year: 2016
Type: article
Abstract: 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.
Source: Scientific Reports
DOI: 10.1038/srep38500
Authors: Bin Wang, Yutao Diao, Qiji Liu, Hongqiang An, Ruiping Ma, Guosheng Jiang, Nannan Lai, Ziwei Li, Xiaoxiao Zhu, Lin Zhao, Qiang Guo, Zhen Zhang, Rong Sun, Xia Li
Institutions: Shandong University of Traditional Chinese Medicine, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, Shandong First Medical University, Shandong University, Xintai People's Hospital, Shandong Provincial QianFoShan Hospital, Shanghai Medical College of Fudan University, Fudan University, Shandong Academy of Chinese Medicine
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $2,690
Awards: G1443642062, G8313093599
OpenAlex ID: W2560143594