Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese

Lee Moay Lim, Xuan Zhao, Mei Chyn Chao, Jer Ming Chang, Wei Chiao Chang, Hung Ying Kao, Daw Yang Hwang, Hung Chun Chen

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)


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.

Original languageEnglish
Article numbere0138152
JournalPLoS One
Issue number9
Publication statusPublished - Sep 30 2015

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

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