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Heterozygous mutations in <jats:italic>COL2A1<\/jats:italic> 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\u2009&gt;\u2009A, p.Gly1173Ser) in exon 50 of <jats:italic>COL2A1<\/jats:italic> in the Gly-X\u2013Y domain. Previously, only five different <jats:italic>COL2A1<\/jats:italic> mutations have been described in patients with familial ANFH. Therefore, our findings provide significant clues to the phenotype\u2013genotype relationships in familial ANFH and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.<\/jats:p>","DOI":"10.1186\/s12920-021-00995-y","type":"journal-article","created":{"date-parts":[[2021,6,4]],"date-time":"2021-06-04T13:03:08Z","timestamp":1622811788000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head"],"prefix":"10.1186","volume":"14","author":[{"given":"Zeng","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kechao","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huiyong","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changqing","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenlin","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,6,4]]},"reference":[{"issue":"1","key":"995_CR1","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/humu.22915","volume":"37","author":"M Barat-Houari","year":"2016","unstructured":"Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, Touitou I. 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All the participants signed informed consent documents according to the Declaration of Helsinki before entering the study.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of clinical details and\/or clinical images was obtained from the all the participants.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"147"}}