Abstract
Pseudoachondroplasia (PSACH; MIM 177170) is a rare disease which was characterized by disproportionate short stature, deformity of the lower limbs, brachydactyly, loose joints, and ligamentous laxity. It is an autosomal dominant osteochondrodysplasia presented in childhood, and usually resolved with age, but osteoarthritis is progressive and severe. Genetic testing using the whole exome sequencing and Sanger sequencing was performed for the patients, a 30-year-old woman and her affected son, who is only 8 years old. A heterozygous mutationin exon 15 of COMP (c.1675G > A, p.Glu559Lys, NM 000095.2) was identified. The Polyphen-2 predicted that the mutation may damage the COMP protein function. This study suggested that the heterozygous mutations in COMP were responsible for PSACH and demonstrated the genotype-phenotype relationship between mutations in COMP and clinical characteristics of PSACH.
Highlights
Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia caused by mutation of the Cartilage oligomeric matrix protein (COMP) gene on 19p13.1-p12 encoding cartilage oligomeric matrix protein (Briggs, Hoffman, King, et al 1995)
This study suggested that the heterozygous mutations in COMP were responsible for PSACH and demonstrated the genotype-phenotype relationship between mutations in COMP and clinical characteristics of PSACH
Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia caused by mutation of the COMP gene on 19p13.1-p12 encoding cartilage oligomeric matrix protein (Briggs, Hoffman, King, et al 1995)
Summary
Pseudoachondroplasia (PSACH) is an autosomal dominant osteochondrodysplasia caused by mutation of the COMP gene on 19p13.1-p12 encoding cartilage oligomeric matrix protein (Briggs, Hoffman, King, et al 1995). Radiographic examination can detect tongue-like anterior protrusion of the central portion of the vertebral bodies, small irregular capital femoral epiphyses in children and marked dysplasia of the femoral head in adults, and shortening of the tubular bones with expended, markedly irregular metaphyses (McKeand, Rotta, & Hecht, 1996). It has been reported that missense mutations of COMP gene can result in single-amino acid substitutions and in-frame deletions could cause defection of codon(s), and these mutations contribute to structural changes of COMP protein and triggers activation of oxidative stress and inflammation, which promotes premature chondrocyte death and leads to development of PSACH (Hecht, Nelson, Crowder, et al, 1995)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
