title: A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis.
abstract: Ankylosing spondylitis (AS; MIM 106300) is a common rheumatic disease with strong genetic components affecting approximately 0.3% of the population. The exact genetic mechanism of AS remains elusive. Our previous study showed that AS could be transmitted in an autosomal dominant inheritance mode and a 6-cM candidate region located on the chromosome 2q36.1-36.3 was mapped in a Chinese family. Mutation screening was conducted within the candidate region in the family and other AS by sequencing, and the novel mutation will be further validated in other AS families, sporadic cases and healthy controls by mass spectrometry. We identified a rare non-synonymous mutation (Arg580Gly) in insulin receptor substrate 1 (IRS1) co-segregated with disease phenotype in patients of the family, which was not found in other AS families, sporadic patients and healthy controls. In the study, we found a rare non-synonymous mutation in IRS1 co-segregation in one Chinese family with AS, which indicated a new candidate disease causative gene for AS.
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Ju
authors.initials: J
authors.lastname: Rong
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Qiuxia
authors.initials: Q
authors.lastname: Li
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Pingping
authors.initials: P
authors.lastname: Zhang
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Xinyu
authors.initials: X
authors.lastname: Wu
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Jinxian
authors.initials: J
authors.lastname: Huang
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Li
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Zetao
authors.initials: Z
authors.lastname: Liao
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Yingying
authors.initials: Y
authors.lastname: Xie
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Lv
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Qiujing
authors.initials: Q
authors.lastname: Wei
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Tianwang
authors.initials: T
authors.lastname: Li
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Jianlin
authors.initials: J
authors.lastname: Huang
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Shuangyan
authors.initials: S
authors.lastname: Cao
authors.affiliation: The Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College and Chinese National Human Genome Research Center, Beijing, China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
authors.affiliation: Division of Rheumatology, the Third Affiliated Hospital of Sun Yat-sen University, Tianhe Road 600, Guangzhou 510630, China.
authors.forename: Jieruo
authors.initials: J
authors.lastname: Gu
mesh_terms: D000328:Adult; D000483:Alleles; D002681:China; D005260:Female; D060005:Genotyping Techniques; D006801:Humans; D055504:Insulin Receptor Substrate Proteins / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D013167:Spondylitis, Ankylosing / Q000235:genetics*
chemical_list: C526292:IRS1 protein, human; D055504:Insulin Receptor Substrate Proteins