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Article

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
  • View Affiliations / Copyright

    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
  • Pages: 2180-2186
    |
    Published online on: July 8, 2016
       https://doi.org/10.3892/mmr.2016.5486
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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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Copy and paste a formatted citation
Spandidos Publications style
Yu WJ, Zhang Z, He JW, Fu WZ, Wang C and Zhang ZL: Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. Mol Med Rep 14: 2180-2186, 2016.
APA
Yu, W., Zhang, Z., He, J., Fu, W., Wang, C., & Zhang, Z. (2016). Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. Molecular Medicine Reports, 14, 2180-2186. https://doi.org/10.3892/mmr.2016.5486
MLA
Yu, W., Zhang, Z., He, J., Fu, W., Wang, C., Zhang, Z."Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia". Molecular Medicine Reports 14.3 (2016): 2180-2186.
Chicago
Yu, W., Zhang, Z., He, J., Fu, W., Wang, C., Zhang, Z."Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia". Molecular Medicine Reports 14, no. 3 (2016): 2180-2186. https://doi.org/10.3892/mmr.2016.5486
Copy and paste a formatted citation
x
Spandidos Publications style
Yu WJ, Zhang Z, He JW, Fu WZ, Wang C and Zhang ZL: Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. Mol Med Rep 14: 2180-2186, 2016.
APA
Yu, W., Zhang, Z., He, J., Fu, W., Wang, C., & Zhang, Z. (2016). Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia. Molecular Medicine Reports, 14, 2180-2186. https://doi.org/10.3892/mmr.2016.5486
MLA
Yu, W., Zhang, Z., He, J., Fu, W., Wang, C., Zhang, Z."Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia". Molecular Medicine Reports 14.3 (2016): 2180-2186.
Chicago
Yu, W., Zhang, Z., He, J., Fu, W., Wang, C., Zhang, Z."Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia". Molecular Medicine Reports 14, no. 3 (2016): 2180-2186. https://doi.org/10.3892/mmr.2016.5486
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