Novel COL2A1 mutation

Avascular necrosis of the femoral head (ANFH) is a debilitating bone disease, characterized by collapse of the femoral head and subsequent loss of hip joint function. Heterozygous mutations in COL2A1 have been identified to cause familial ANFH. Here we report on a large Chinese family with ANFH and a novel heterozygous mutation (c.3517 G>A, p.Gly1173Ser) in exon 50 of COL2A1 in the Gly-X-Y domain. Previously, only five different COL2A1 mutations have been described in patients with familial ANFH. Therefore, our findings provide significant clues to the phenotype-genotype relationships in familial ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.股骨头缺血性坏死（Avascular necrosis of the femoral head, ANFH）是一种致残性骨骼疾病，以股骨头塌陷及继发髋关节功能丧失为主要特征。现有研究证实，COL2A1基因的杂合突变可引发家族性股骨头缺血性坏死。本研究报道了一个大型中国家族性股骨头缺血性坏死家系，该家系患者的COL2A1基因第50号外显子的Gly-X-Y结构域内存在一处新型杂合突变（c.3517 G>A，p.Gly1173Ser）。此前，仅报道过5种不同的COL2A1基因突变与家族性股骨头缺血性坏死相关。本研究结果为家族性股骨头缺血性坏死的表型-基因型关联提供了重要线索，或可辅助临床诊断；此外，该发现也将有助于进一步开展胶原病发病机制的相关研究。