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

Hilary H. Seeley, Lindsey A Loomba-Albrecht, Mato Nagel, Lavjay Butani, Andrew A. Bremer

Research output: Contribution to journalArticle

9 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)177-180
Number of pages4
JournalWorld Journal of Pediatrics
Volume8
Issue number2
DOIs
StatePublished - May 2012

Fingerprint

Siblings
Mutation
Genetic Association Studies
Epigenomics
Medical Records
Hypomagnesemia primary
Phenotype
Genes
Therapeutics

Keywords

  • Claudin-16
  • Hypercalciuria
  • Hypomagnesemia
  • Nephrocalcinosis
  • Paracellin-1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Medicine(all)

Cite this

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title = "Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations",
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.",
keywords = "Claudin-16, Hypercalciuria, Hypomagnesemia, Nephrocalcinosis, Paracellin-1",
author = "Seeley, {Hilary H.} and Loomba-Albrecht, {Lindsey A} and Mato Nagel and Lavjay Butani and Bremer, {Andrew A.}",
year = "2012",
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doi = "10.1007/s12519-011-0295-3",
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journal = "World Journal of Pediatrics",
issn = "1708-8569",
publisher = "Institute of Pediatrics of Zhejiang University",
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T1 - Familial hypomagnesemia with hypercalciuria and nephrocalcinosis in three siblings having the same genetic lesion but different clinical presentations

AU - Seeley, Hilary H.

AU - Loomba-Albrecht, Lindsey A

AU - Nagel, Mato

AU - Butani, Lavjay

AU - Bremer, Andrew A.

PY - 2012/5

Y1 - 2012/5

N2 - 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.

AB - 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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KW - Nephrocalcinosis

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