Novel COMP Mutation

Published: 17-04-2020| Version 1 | DOI: 10.17632/gcfxv4yws3.1
Contributor:
Jiashen Shao

Description

We recruited an AD-MED family with 10 affected members and 17 unaffected members. The main radiographic findings were symmetrical changes in the dysplastic acetabulum and femoral heads, irregular contours of the epiphyses, a shortened femoral neck, and flatfoot. Lower bone density was also observed in the ankle joints, wrist joints, and knees, as well as irregular vertebral end plates. In the proband, we identified the missense mutation c.1153G>T (p. Asp385Tyr), located in exon 11 of the COMP gene. This mutation was assessed as “pathogenic” because of its low allele frequency and its high likelihood of co-segregation with disease in the reported family. Sanger sequencing identified the novel heterozygous mutation c.1153G>T (p. Asp385Tyr) in exon 11 of COMP in all affected individuals in the family.

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