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Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss.

Maria T Bernardi1, Memoona Ramzan2, Laura Calderon3

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Genetic variants in ACTG1 cause severe hearing loss, a common human sensory defect. These mutations lead to diverse clinical presentations, highlighting the variability in ACTG1-related disorders.

Keywords:
ACTG1hearing loss

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Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • Hearing loss is a prevalent sensory deficit impacting communication, often resulting from genetic and environmental factors.
  • Single-gene mutations can cause syndromic or non-syndromic hearing loss.
  • Variants in ACTG1, encoding gamma (γ)-actin, are linked to Baraitser-Winter Syndrome type 2 (BRWS2) and other deafness phenotypes.

Purpose of the Study:

  • To report on two unrelated patients with ACTG1 variants.
  • To investigate the phenotypic variability associated with ACTG1 mutations.
  • To further understand the genetic basis of hearing loss.

Main Methods:

  • Clinical case reporting.
  • Genetic variant analysis in ACTG1.
  • Phenotypic characterization of patients.

Main Results:

  • Two unrelated patients presented with severe hearing loss.
  • Both patients carried ACTG1 variants.
  • Clinical presentations differed significantly between the two patients.
  • The findings support extreme variability in ACTG1-related disorders.

Conclusions:

  • Monoallelic ACTG1 variants are associated with severe hearing loss.
  • ACTG1-related disorders exhibit significant clinical heterogeneity.
  • Genetic factors play a crucial role in diverse forms of hearing loss.