Clinical and genetic analysis of vitamin D-dependent rickets type IA in two Chinese families

  • LI Yunfei ,
  • ZHANG Ying ,
  • YANG Xiaohong ,
  • CHEN Ruimin ,
  • YUAN Xin ,
  • LIN Xiangquan
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  • Department of Endocrinology, Fuzhou Children's Hospital of Fujian, Educational Hospital of Fujian Medical University, Fuzhou 350005, Fujian, China

Received date: 2015-12-15

  Online published: 2015-12-15

Abstract

 Objective To analyze the clinical characteristics and CYP27B1 gene mutation vitamin D-dependent rickets type IA (VDDR-IA) in two Chinese families. Methods Clinical manifestations, laboratory data, and radiological findings were analyzed in two patients with VDDR-IA. Nine exons and intron-exon boundaries of CYP27B1 gene were amplified by PCR and sequenced. Results Two female patients (22 and 33 months of age, respectively) had typical manifestations, laboratory, and radiological findings of rickets. Genetic sequencing identified a homozygous mutation in exon 8 of CYP27B1 gene (1319_1325dupCCCACCC). There were more than one person with single heterozygous mutation in two families. Two patients were treated with oral calcitriol and calcium. The condition were stable and continued follow up. Conclusions It is important to detection c.1319_1325dupCCCACCC homozygous mutation in VDDR-IA patient.

Cite this article

LI Yunfei , ZHANG Ying , YANG Xiaohong , CHEN Ruimin , YUAN Xin , LIN Xiangquan . Clinical and genetic analysis of vitamin D-dependent rickets type IA in two Chinese families[J]. Journal of Clinical Pediatrics, 2015 , 33(12) : 1001 . DOI: 10.3969 j.issn.1000-3606.2015.12.001

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