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This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the <jats:italic>VDR<\/jats:italic> gene, all the exons and exon\u2013intron junctions of the <jats:italic>VDR<\/jats:italic> gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G&gt;A (p.C41Y) in the <jats:italic>VDR<\/jats:italic> gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G&gt;A (p.C41Y) in the <jats:italic>VDR<\/jats:italic> gene was found to be responsible for the patient\u2019s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.<\/jats:p>","DOI":"10.1038\/boneres.2016.18","type":"journal-article","created":{"date-parts":[[2016,6,28]],"date-time":"2016-06-28T10:29:13Z","timestamp":1467109753000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets"],"prefix":"10.1038","volume":"4","author":[{"given":"Qianqian","family":"Pang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuan","family":"Qi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ou","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaoping","family":"Xing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jin","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Weibo","family":"Xia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,6,21]]},"reference":[{"key":"BFboneres201618_CR1","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1007\/s12020-011-9450-9","volume":"40","author":"V Supornsilchai","year":"2011","unstructured":"Supornsilchai V, Hiranras Y, Wacharasindhu S et al. 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