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Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations

Graciana Jaureguiberry1, Muriel De la Dure-Molla, David Parry

  • 1Centre for Nephrology, University College London, London, UK.

Nephron. Physiology
|February 26, 2013
PubMed
Abstract

Insights

Genetic mutations in FAM20A cause enamel renal syndrome, a disorder characterized by nephrocalcinosis and dental defects. This study identified 20 novel FAM20A mutations in affected families.

Area of Science:

  • Genetics
  • Nephrology
  • Biochemistry

Background:

  • Calcium homeostasis is crucial for kidney function, and disruptions lead to nephrocalcinosis and nephrolithiasis.
  • The exact pathogenesis of these conditions is not fully understood.
  • Dental defects are sometimes associated with kidney stone formation.

Purpose of the Study:

  • To identify the genetic cause of unexplained nephrocalcinosis and associated dental defects.
  • To investigate the role of FAM20A in enamel renal syndrome.

Main Methods:

  • Genome-wide linkage analysis was performed on 25 patients from 16 families.
  • Exome capture and next-generation sequencing were utilized to identify causative mutations.
  • Sanger sequencing confirmed the identified FAM20A mutations.

Main Results:

  • All patients presented with bi-allelic FAM20A mutations.
  • Twenty distinct FAM20A mutations were identified across the studied families.
  • The identified mutations segregated with the observed clinical phenotype.

Conclusions:

  • Autosomal recessive FAM20A mutations cause enamel renal syndrome, characterized by nephrocalcinosis and amelogenesis imperfecta.
  • FAM20A is essential for proper calcium regulation and kidney health.
  • All individuals with biallelic FAM20A mutations are predicted to develop nephrocalcinosis.

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