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

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.

• Authors: Wei-Jia Yu, Zeng Zhang, Jin-Wei He, Wen-Zhen Fu, Chun Wang, Zhen-Lin Zhang
• Journal: Molecular medicine reports (Mol Med Rep) Vol. 14 Issue 3 Pg. 2180-6 (Sep 2016) ISSN: 1791-3004 [Electronic] Greece
• PMID: 27432013 (Publication Type: Journal Article)

Chemical References

• COMP protein, human
• Cartilage Oligomeric Matrix Protein

Topics

• Achondroplasia (diagnosis, genetics)
• Adolescent
• Amino Acid Sequence
• Bone and Bones (diagnostic imaging, pathology)
• Cartilage Oligomeric Matrix Protein (genetics)
• Child
• Child, Preschool
• DNA Mutational Analysis
• Female
• Humans
• Male
• Mutation
• Pedigree
• Phenotype
• Radiography
• Young Adult