A novel mutation in CLDN16 results in rare familial hypomagnesaemia with hypercalciuria and nephrocalcinosis in a Chinese family

Fang Lv, Xiao jie Xu, Jian yi Wang, Yi Liu, Yan Jiang, Ou Wang, Wei bo Xia, Xiao ping Xing, Mei Li*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

Background: Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC) is a rare autosomal recessively inherited disease characterized by excessive wasting of renal tubular magnesium and calcium. FHHNC is associated with various mutations in CLDN16 and CLDN19. Cases: Two children from a consanguineous family of Chinese Han origin demonstrated manifestations of rickets, polyuria, polydipsia, hematuria and failure to thrive. Hypomagnesaemia (0.49-0.50 mmol/L), hypercalciuria or a trend to hypercalciuria (24 hour urine calcium: 3.8-5.1 mg/kg/day), and secondary hyperparathyroidism (serum PTH level: 94.7-200 pg/mL) were revealed upon laboratory examination. Using targeted next-generation sequencing and subsequent confirmation by Sanger sequencing, a novel homozygous mutation was identified in the CLDN16 gene of both FHHNC patients. This specific mutation, a 16 bp deletion followed by a 23 bp insertion in exon 3, led to the generation of a premature termination codon. The parents and an unaffected sister were all heterozygous carriers of this mutation. Conclusions: We detected a novel mutation in CLDN16 for the first time. The clinical and genetic findings from this study will help to expand the understanding of this rare disease, FHHNC.

Original languageEnglish
Pages (from-to)69-74
Number of pages6
JournalClinica Chimica Acta
Volume457
DOIs
Publication statusPublished - 1 Jun 2016
Externally publishedYes

Keywords

  • CLDN16
  • Hypercalciuria
  • Hypomagnesaemia
  • Nephrocalcinosis
  • Rickets

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