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Paramagnetic Relaxation Enhancement for Detecting and Characterizing Self-Associations of Intrinsically Disordered Proteins
07:24

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Published on: September 23, 2021

CHARGE: an association or a syndrome?

Arzu Pampal1

  • 1Ufuk University Faculty of Medicine, Department of Pediatric Surgery, Ankara, Turkey. ademirtola@yahoo.com

International Journal of Pediatric Otorhinolaryngology
|April 6, 2010
PubMed

Insights

Genetic mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene are the primary cause of CHARGE syndrome. Haploinsufficiency of CHD7 leads to developmental errors, explaining the condition's complex symptoms.

Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • CHARGE association is a rare condition with multiple congenital anomalies requiring a multidisciplinary approach.
  • Accurate diagnosis is crucial for pediatric surgery and otorhinolaryngology due to associated surgical anomalies.

Purpose of the Study:

  • To present the latest evidence on the genetic basis of CHARGE.

Main Methods:

  • A computed literature review was conducted.
  • Databases used included PubMed and OMIM.

Main Results:

  • Heterozygous mutations in the chromodomain helicase DNA binding protein 7 (CHD7) gene were identified in two-thirds of CHARGE patients.
  • CHD7 gene haploinsufficiency causes prenatal and postnatal developmental regulation errors, aligning with the broad spectrum of CHARGE phenotypes.

Conclusions:

  • CHD7 gene haploinsufficiency is the likely genetic basis for CHARGE.
  • Evidence suggests CHARGE should be classified as a syndrome rather than an association, despite the genetic basis remaining unknown in one-third of cases.
Abstract

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