Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia

Yu,Wei‑Jia; Zhang,Zeng; He,Jin‑Wei; Fu,Wen‑Zhen; Wang,Chun; Zhang,Zhen‑Lin

doi:10.3892/mmr.2016.5486

Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia

Authors:
- Wei‑Jia Yu
- Zeng Zhang
- Jin‑Wei He
- Wen‑Zhen Fu
- Chun Wang
- Zhen‑Lin Zhang
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Affiliations: Department of Osteoporosis and Bone Diseases, Metabolic Bone Disease and Genetic Research Unit, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China, Department of Orthopedic Surgery, Sixth People's Hospital Affiliated to Shanghai Jiao Tong University, Shanghai 200233, P.R. China
Published online on: July 8, 2016 https://doi.org/10.3892/mmr.2016.5486
Pages: 2180-2186

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Abstract

Pseudoachondroplasia (PSACH; MIM no. 177170) is an autosomal dominant osteochondrodysplasia characterized by short‑limb short stature, brachydactyly and early‑onset osteoarthropathy. Typically, at approximately two years of age, the rate of growth falls below the standard growth curve, causing a moderately severe form of disproportionate short‑limb short stature. The current study described the clinical and radiographic observations of six Chinese patients with PSACH, and identified two de novo novel missense mutations [p.Asp326Asn (c.976G>A) and c.1585A>G (p.Thr529Ala)] in cartilage oligomeric matrix protein (COMP) in the patients. The current study expanded the mutation spectrum of the COMP gene, and contributes to the understanding of phenotype/genotype of COMP‑associated diseases.

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