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World J Pediatr. 2012 May;8(2):177-80. doi: 10.1007/s12519-011-0295-3. Epub 2011 Jun 1.

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations.

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1
Department of Pediatrics, University of California, San Francisco, California 94143, USA.

Abstract

BACKGROUND:

This article summarizes the varying clinical manifestations of three siblings with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) caused by the same genetic lesion.

METHODS:

The medical records of three siblings with FHHNC (one girl and two boys, aged 6 to 12 years) were reviewed and the clinical manifestations and treatment of their disease were described.

RESULTS:

Despite varying phenotypes, each sibling had the same genetic lesion-a novel homozygous mutation in CLDN16 (c.211A>G, M71V).

CONCLUSION:

Although FHHNC is a rare disorder, this report is significant for the following reasons: (i) it describes a novel CLDN16 mutation causing FHHNC, adding to the literature of FHHNC-causing CLDN16 mutations; (ii) it suggests that genes other than CLDN16 or epigenetic factors are involved in the clinical spectrum of FHHNC; and (iii) it reinforces the variability of disease manifestation and genotype-phenotype correlations.

PMID:
21633858
DOI:
10.1007/s12519-011-0295-3
[Indexed for MEDLINE]
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