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 journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Article numbere0138152
JournalPLoS One
Volume10
Issue number9
DOIs
Publication statusPublished - Sep 30 2015

Fingerprint

Familial Hypophosphatemic Rickets
rickets
Rickets
Calcitriol Receptors
vitamin D
Vitamin D
mutation
Mutation
receptors
Gene encoding
Dimerization
Hypophosphatemia
Polymorphism
toddlers
hypocalcemia
dimerization
Hypocalcemia
alopecia
Alopecia
transcriptional activation

ASJC Scopus subject areas

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

Cite this

Lim, L. M., Zhao, X., Chao, M. C., Chang, J. M., Chang, W. C., Kao, H. Y., ... Chen, H. C. (2015). Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese. PLoS One, 10(9), [e0138152]. https://doi.org/10.1371/journal.pone.0138152

Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese. / Lim, Lee Moay; Zhao, Xuan; Chao, Mei Chyn; Chang, Jer Ming; Chang, Wei Chiao; Kao, Hung Ying; Hwang, Daw Yang; Chen, Hung Chun.

In: PLoS One, Vol. 10, No. 9, e0138152, 30.09.2015.

Research output: Contribution to journalArticle

Lim, LM, Zhao, X, Chao, MC, Chang, JM, Chang, WC, Kao, HY, Hwang, DY & Chen, HC 2015, 'Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese', PLoS One, vol. 10, no. 9, e0138152. https://doi.org/10.1371/journal.pone.0138152
Lim, Lee Moay ; Zhao, Xuan ; Chao, Mei Chyn ; Chang, Jer Ming ; Chang, Wei Chiao ; Kao, Hung Ying ; Hwang, Daw Yang ; Chen, Hung Chun. / Novel vitamin D receptor mutations in hereditary vitamin D resistant rickets in Chinese. In: PLoS One. 2015 ; Vol. 10, No. 9.
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