title: An increased duplication of ZRS region that caused more than one supernumerary digits preaxial polydactyly in a large Chinese family.
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.
authors.affiliation: Department of peripheral vascular disease, Affiliated Hospital of Shandong University of Traditional Chinese Medicine, 42 Wenhua xi Road, Jinan 250011, Shandong, China.
authors.forename: Bin
authors.initials: B
authors.lastname: Wang
authors.affiliation: 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.
authors.forename: Yutao
authors.initials: Y
authors.lastname: Diao
authors.affiliation: Department of medical genetics, Shandong University, School of Medicine, Jinan 250012, Shandong, China.
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
authors.affiliation: Department of Orthopedic Surgery, People's Hospital of Xintai, Xintai 271200, Shandong, China.
authors.forename: Hongqiang
authors.initials: H
authors.lastname: An
authors.affiliation: Shandong Provincial Qianfoshan Hospital, 16766 Jingshi Road, Jinan 250014, Shandong, China.
authors.forename: Ruiping
authors.initials: R
authors.lastname: Ma
authors.affiliation: 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.
authors.forename: Guosheng
authors.initials: G
authors.lastname: Jiang
authors.affiliation: Department of Immunology, School of Basic Medical Sciences, Fudan University, Shanghai 200032, China.
authors.forename: Nannan
authors.initials: N
authors.lastname: Lai
authors.affiliation: 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.
authors.forename: Ziwei
authors.initials: Z
authors.lastname: Li
authors.affiliation: 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.
authors.forename: Xiaoxiao
authors.initials: X
authors.lastname: Zhu
authors.affiliation: 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.
authors.forename: Lin
authors.initials: L
authors.lastname: Zhao
authors.affiliation: 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.
authors.forename: Qiang
authors.initials: Q
authors.lastname: Guo
authors.affiliation: 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.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: Shandong Academy of Chinese Medicine, Yanzi Shanxi Road, Jinan 250014, Shandong, China.
authors.forename: Rong
authors.initials: R
authors.lastname: Sun
authors.affiliation: 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.
authors.forename: Xia
authors.initials: X
authors.lastname: Li
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D005190:Family; D005260:Female; D005385:Fingers / Q000473:pathology*; D020440:Gene Duplication; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics; D017689:Polydactyly / Q000000981:diagnostic imaging / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012045:Regulatory Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: C485955:LMBR1 protein, human; D008565:Membrane Proteins