title: Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.
abstract: Proximal symphalangism (SYM1) is an autosomal dominant disorder, mainly characterized by variable fusion of the proximal interphalangeal joints of the hands and feet. To date, two genes, GDF5 and NOG, have been reported to associate with SYM1. Herein, we clinically characterized a Chinese family with fusions of the bilateral proximal interphalangeal joints in the 2-5 digits without conductive hearing loss. Direct DNA sequencing of the two genes revealed a novel heterozygous missense mutation (c.499C>T, p.R167C) in the NOG gene. This mutation co-segregates with the phenotype in the family and is not present in the 200 control individuals. The c.499C>T mutation is predicted to change the conserved amino acid arginine at codon 167 to cysteine at the protein level. A different mutation in the same codon (R167G) has been described to cause brachydactyly type B2 (BDB2). Our work indicates that the c.499C>T (R167C) mutation is likely to represent the pathogenic mutation in the family. This finding broadens the spectrum of NOG mutations associated with SYM1 and will help to provide genetic counseling to the affected family.
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
authors: Fei
authors: F
authors: Liu
authors: Hubei Polytechnic Institute, 432000, PR China.
authors: Yinghao
authors: Y
authors: Huang
authors: School of Life Science, Fudan University, Shanghai 200433, PR China.
authors: Luying
authors: L
authors: Liu
authors: Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430022, PR China.
authors: Bo
authors: B
authors: Liang
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
authors: Zhen
authors: Z
authors: Qu
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
authors: Gang
authors: G
authors: Huang
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
authors: Chang
authors: C
authors: Li
authors: Xiaogan Central Hospital, Xiaogan, Hubei 432000, PR China.
authors: Ronghua
authors: R
authors: Tian
authors: Xiaogan Central Hospital, Xiaogan, Hubei 432000, PR China.
authors: Zhuhui
authors: Z
authors: Jiang
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
authors: Fucan
authors: F
authors: Liu
authors: Xiaogan Central Hospital, Xiaogan, Hubei 432000, PR China.
authors: Xiaoyan
authors: X
authors: Yu
authors: Xiaogan Central Hospital, Xiaogan, Hubei 432000, PR China.
authors: Yingjie
authors: Y
authors: Huang
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China.
authors: Jingyu
authors: J
authors: Liu
authors: Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, Hubei 430074, PR China. Electronic address: zh_tang@mail.hust.edu.cn.
authors: Zhaohui
authors: Z
authors: Tang
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D044466:Asian People / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D019295:Computational Biology; D004252:DNA Mutational Analysis; D005260:Female; D005384:Finger Joint / Q000002:abnormalities*; D006579:Heterozygote; D006801:Humans; D040582:Inheritance Patterns; D007592:Joint Diseases / Q000151:congenital* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D055815:Young Adult; D000099176:Noggin Protein
chemical_list: D002352:Carrier Proteins; D000099176:Noggin Protein
keywords: BMP signaling; Mutation; NOG; Proximal symphalangism