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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.

SUBMITTER: Lim LM

PROVIDER: S-EPMC4589239 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese.

Lim Lee-Moay LM Zhao Xuan X Chao Mei-Chyn MC Chang Jer-Ming JM Chang Wei-Chiao WC Kao Hung-Ying HY Hwang Daw-Yang DY Chen Hung-Chun HC

PloS one 20150930 9

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.M ...[more]

PMID: 26422470

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