A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calve-Perthes disease or avascular necrosis of the femoral head.

ABSTRACT:

Objective

Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa vara and elevation of the greater trochanter of the femur comprise the typical phenotype of LCPD, but do not occur in ANFH. Lack of synthesis of type II collagen and structural defects are responsible for the major clinical outcomes, because collagen is the essential matrix protein of all connective tissues. Type II collagen, encoded by the COL2A1 gene, contains N- and C- ter

SUBMITTER: Li N 

PROVIDER: S-EPMC4065060 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature