Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia |
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| Authors: | Zeng Zhang Shi-Chang Zhao Jin-Wei He Wen-Zhen Fu Chang-Qing Zhang Zhen-Lin Zhang |
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| Affiliation: | 1. Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People''s Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China;2. Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People''s Hospital, Shanghai 200233, 600 Yi-Shan Rd., PR China |
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| Abstract: | ![]()
Spondyloperipheral dysplasia (SPD; OMIM 271700) is an autosomal dominant connective tissue disorder characterized by vertebral body abnormalities (platyspondyly, end-plate indentations), hip dysplasia and brachydactyly type E. Here, we identified a novel truncating mutation (p.Lys1444AsnfsX27) in the C-propeptide of type II collagen in an affected Chinese individual with SPD. Our findings will provide clues to the phenotype–genotype relations and may assist not only in the clinical diagnosis of SPD but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling. |
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| Keywords: | ANFH, avascular necrosis of the femoral head COL2A1, collagen, type II, alpha 1 ER, endoplasmic reticulum PLSD-T, platyspondylic skeletal dysplasia, Torrance SPD, Spondyloperipheral dysplasia VPED, vitreoretinopathy with phalangeal epiphyseal dysplasia |
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