TITLE

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin

AUTHOR(S)
Li Dai; Liang Xie; Yanping Wang; Meng Mao; Nana Li; Jun Zhu; Christopher Kim; Yawei Zhang
PUB. DATE
January 2011
SOURCE
BMC Medical Genetics;2011, Vol. 12 Issue 1, p72
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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 stature (-10SD). A heterozygous TGTCCCTGG insertion in exon 13, between nucleotide 1352T and 1353G, were identified in the patients except the unaffected individuals, which resulted in a three-amino-acid insertion (451V•452P ins VPG) in the sixth calmodulin-like repeat of the COMP protein. Conclusion: This c. 1352•1353ins TGTCCCTGG is a novel mutation responsible for severe familial PSACH.
ACCESSION #
62657325

 

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