title: Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.
abstract: Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. This disorder predominantly involves the skeletal system, with the leading features of platyspondyly, metaphyseal dysplasia of limbs and extremities, and progressive degeneration of joints. To date, 53 distinct forms of WISP3 mutations have been detected globally, eleven of which originated from Chinese patients. In the current study, we reported the clinical manifestations and radiographic features of two unrelated Chinese SEDT-PA patients. Through genetic analysis, two novel mutations (c.624delA, c.105dupT) as well as one recurrent mutation (c.342T>G) were identified in the WISP3 gene. Our study contributed to the further expansion of the WISP3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the WISP3 gene and clinical findings of SEDT-PA.
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, DonDanSanTiao Street, 100730 Beijing, China; Department of Cardiology, Fuwai Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, North LiShi Road, 100037 Beijing, China.
authors.forename: Limin
authors.initials: L
authors.lastname: Liu
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, DonDanSanTiao Street, 100730 Beijing, China; Department of Geriatric Endocrinology, Chinese PLA General Hospital, FuXing Road, 100853, Beijing, China.
authors.forename: Nan
authors.initials: N
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, DonDanSanTiao Street, 100730 Beijing, China.
authors.forename: Zhen
authors.initials: Z
authors.lastname: Zhao
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, DonDanSanTiao Street, 100730 Beijing, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Li
authors.affiliation: Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, DonDanSanTiao Street, 100730 Beijing, China. Electronic address: xiaweibonfm@126.com.
authors.forename: Weibo
authors.initials: W
authors.lastname: Xia
mesh_terms: D000293:Adolescent; D000328:Adult; D001177:Arthropathy, Neurogenic / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D055511:CCN Intercellular Signaling Proteins / Q000235:genetics*; D006801:Humans; D007592:Joint Diseases / Q000151:congenital; D008297:Male; D009154:Mutation
chemical_list: D055511:CCN Intercellular Signaling Proteins; C400081:CCN6 protein, human
keywords: Mutation; Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA); Wnt1-inducible signaling pathway protein 3 (WISP3)