An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family
Autor: | Xia Li, Yutao Diao, Ruiping Ma, Rong Sun, Qiang Guo, Zhen Zhang, Lin Zhao, Nannan Lai, Xiaoxiao Zhu, Ziwei Li, Guosheng Jiang, Bin Wang, Hongqiang An, Qiji Liu |
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Rok vydání: | 2016 |
Předmět: |
Male
0301 basic medicine Genotype Genetic Linkage Pedigree chart Regulatory Sequences Nucleic Acid Thumb Biology Polymorphism Single Nucleotide Article Fingers 03 medical and health sciences Asian People Gene Duplication Gene duplication medicine Humans Point Mutation Family Syndactyly Genetics Multidisciplinary Base Sequence Polydactyly Point mutation Infant Newborn Preaxial polydactyly Membrane Proteins Anatomy medicine.disease Introns Pedigree body regions 030104 developmental biology medicine.anatomical_structure Zone of polarizing activity Child Preschool Female Microsatellite Repeats |
Zdroj: | Scientific Reports |
ISSN: | 2045-2322 |
Popis: | 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. |
Databáze: | OpenAIRE |
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