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Common mutation causes cystinosis in the majority of black South African patients

E Patricia Owen1, Jenisha Nandhlal, Felicity Leisegang

  • 1Division of Chemical Pathology, University of Cape Town-National Health Laboratory Service South Africa, Cape Town, South Africa.

Pediatric Nephrology (Berlin, Germany)
|October 19, 2014
PubMed

Insights

A common G>A mutation in the CTNS gene (c.971-12G>A) was identified in most South African cystinosis patients. This finding aids in diagnosing cystinosis in black South African and Cape Coloured populations.

Area of Science:

  • Genetics
  • Pediatrics
  • Rare Diseases

Background:

  • Cystinosis mutations in South African patients were previously unknown.
  • This study investigated if these mutations align with those found globally.

Purpose of the Study:

  • To identify the genetic mutations causing cystinosis in South African children.
  • To determine the prevalence of specific mutations within this population.

Main Methods:

  • Molecular analysis of the cystinosis gene (CTNS) in 20 pediatric patients.
  • Sequence variation detection in children from the Western Cape Province (2002-2013).

Main Results:

  • A specific G>A mutation (CTNS-c.971-12G>A) was found in 19 out of 20 patients.
  • This mutation was the most frequent in black South African (96%) and Cape Coloured (71%) patients.
  • Nephropathic infantile cystinosis with proximal tubulopathy was diagnosed in all patients.

Conclusions:

  • Recommend testing for CTNS-c.971-12G>A in South African patients with cystinosis.
  • Suggest offering prenatal testing for at-risk families based on identified mutations.
Abstract

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