A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.

ABSTRACT:

Background

Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (COMP). Only a small number of studies have documented the clinical phenotype and genetic basis in Chinese PSACH patients.

Case presentation

We investigated a four-generation PSACH pedigree of Chinese Han origin. Two patients and two unaffected individuals were recruited for clinical evaluation and molecular genetic analysis. The genomic DNA was extracted from peripheral blood leukocytes. Polymerase chain reaction (PCR) was adopted to amplify the 8-19 exons of COMP gene. Then the products were sequenced bi-directionally for screening mutation. Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short statur

SUBMITTER: Dai L 

PROVIDER: S-EPMC3119180 | biostudies-literature | 2011 May

REPOSITORIES: biostudies-literature