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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, University of California, San Francisco, California 94143, USA.
authors.forename: Hilary H
authors.initials: HH
authors.lastname: Seeley
authors.forename: Lindsey A
authors.initials: LA
authors.lastname: Loomba-Albrecht
authors.forename: Mato
authors.initials: M
authors.lastname: Nagel
authors.forename: Lavjay
authors.initials: L
authors.lastname: Butani
authors.forename: Andrew A
authors.initials: AA
authors.lastname: Bremer
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D053565:Hypercalciuria / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009397:Nephrocalcinosis / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D015499:Renal Tubular Transport, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics*