AI Article Synopsis
- - The article discusses three siblings diagnosed with familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), highlighting their different clinical signs despite having the same genetic issue.
- - A detailed review of their medical records revealed that all three carried a new homozygous mutation in the CLDN16 gene, indicating a shared genetic origin for their condition.
- - The report emphasizes the importance of this mutation, suggesting that other genetic or epigenetic factors may contribute to the variability in the disease's symptoms and underscores the complexity of genotype-phenotype relationships in FHHNC.
Article 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.
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| http://dx.doi.org/10.1007/s12519-011-0295-3 | DOI Listing |
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