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Barakat syndrome revisited.

Amin J Barakat1, Margarita Raygada1,2, Owen M Rennert2,3

  • 1Georgetown University Medical Center, Washington, DC.

American Journal of Medical Genetics. Part A
|April 18, 2018
PubMed
Summary

Barakat syndrome, a rare genetic disorder, is defined by hypoparathyroidism, deafness, and renal disease. Diagnosis guidelines are proposed, emphasizing GATA3 gene testing for specific cases to clarify this heterogeneous condition.

Keywords:
Barakat syndromeGATA3HDR syndromechromosome 10pdeafnesshypoparathyroidismrenal disease

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Area of Science:

  • Genetics and Human Diseases
  • Endocrinology and Nephrology

Background:

  • Barakat syndrome (HDR syndrome) is a rare genetic disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease.
  • The syndrome is linked to chromosome 10p14 deletions or GATA3 gene mutations.
  • Existing definitions are complicated by cases with variable components and GATA3 defects, necessitating clearer diagnostic criteria.

Purpose of the Study:

  • To analyze 180 cases of Barakat syndrome to define its phenotype more precisely.
  • To propose diagnostic guidelines for Barakat syndrome.
  • To clarify the role of GATA3 gene testing in diagnosis.

Main Methods:

  • Retrospective analysis of 180 documented cases of Barakat syndrome.
  • Review of clinical presentations and genetic findings, including GATA3 status.
  • Development of diagnostic criteria based on the presence of core components and family history.

Main Results:

  • Only 64.4% of analyzed patients presented with the classic triad of hypoparathyroidism, deafness, and renal disease.
  • Proposed diagnostic criteria include the triad, or two components with a positive family history.
  • GATA3 testing is recommended for isolated deafness or renal disease with family history, but not for isolated hypoparathyroidism without other components.

Conclusions:

  • Barakat syndrome exhibits genotypic heterogeneity, with variable phenotypic expression.
  • The proposed diagnostic guidelines aim to standardize identification and management.
  • GATA3 testing is a valuable tool for confirming diagnosis in specific clinical scenarios.