RGD Reference Report - Identification of a novel NOG mutation in a Chinese family with proximal symphalangism. - Rat Genome Database

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Identification of a novel NOG mutation in a Chinese family with proximal symphalangism.

Authors: Liu, Fei  Huang, Yinghao  Liu, Luying  Liang, Bo  Qu, Zhen  Huang, Gang  Li, Chang  Tian, Ronghua  Jiang, Zhuhui  Liu, Fucan  Yu, Xiaoyan  Huang, Yingjie  Liu, Jingyu  Tang, Zhaohui 
Citation: Liu F, etal., Clin Chim Acta. 2014 Feb 15;429:129-33. doi: 10.1016/j.cca.2013.12.004. Epub 2013 Dec 8.
RGD ID: 12801479
Pubmed: PMID:24326127   (View Abstract at PubMed)
DOI: DOI:10.1016/j.cca.2013.12.004   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
proximal symphalangism  IAGP 12801479DNA:missense mutation:cds:c.499C>T(p.R167C)humanRGD 
proximal symphalangism  ISONOG (Homo sapiens)12801479; 12801479DNA:missense mutation:cds:c.499C>T(p.R167C)humanRGD 

Objects Annotated

Genes (Rattus norvegicus)
Nog  (noggin)

Genes (Mus musculus)
Nog  (noggin)

Genes (Homo sapiens)
NOG  (noggin)


Additional Information