@article{749e50e423e64d7589d2589d1be5dd47,
title = "Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese",
abstract = "Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR), a rare recessive disease, is caused by mutation in the VDR gene encoding the vitamin D receptor leading to the resistance to vitamin D. We described a female toddler with initial presentation of leg tenderness and clinical features of HVDRR including severe rickets, hypocalcemia and hypophosphatemia without alopecia. Genetic analysis revealed novel compound heterozygous mutations of p.M4I and p.H229Q in patient's VDR gene. In cis p.M4I with FOKI-F eliminated both translation start sites of the VDR protein. The p.H229Q VDR exhibited significantly reduced VDR transactivation activity with intact dimerization with RXR. Our report expanded the mutation spectrum of HVDRR, and provided the first case of a benign variant p.M4I plus a common p.M1T polymorphism leading to a pathogenic allele.",
author = "Lim, {Lee Moay} and Xuan Zhao and Chao, {Mei Chyn} and Chang, {Jer Ming} and Chang, {Wei Chiao} and Kao, {Hung Ying} and Hwang, {Daw Yang} and Chen, {Hung Chun}",
note = "Funding Information: We thank the members of the investigated VDR kindred for participating in the research study. This study is supported partly by Kaohsiung Medical University Aim for the Top Universities Grant KMU-TP103D15, KMUH Nephrology Research Fund, and partly supported by NIH RO1 DK078965 and HL093269 to H.-Y. Kao. The authors acknowledge the technical services provided by Sequencing Core Facility of the National Yang-Ming University Genome Research Center (YMGC). The Sequencing Core Facility is supported by National Research Program for Genomic Medicine (NRPGM), National Science Council, Taiwan, ROC. We would like to thank Dr. Marie B. Demay from the Endocrine Unit, Massachusetts General Hospital and Harvard Medical School, Boston who kindly provide the plasmid. Publisher Copyright: {\textcopyright} 2015 Lim et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.",
year = "2015",
month = sep,
day = "30",
doi = "10.1371/journal.pone.0138152",
language = "English",
volume = "10",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "9",
}