Extreme Phenotypic Variability of <i>ACTG1</i>‐Related Disorders in Hearing Loss
Hearing loss is the most common sensory defect in humans, affecting normal communication. In most cases, hearing loss is a multifactorial disorder caused by both genetic and environmental factors, but single-gene mutations can lead to syndromic or non-syndromic hearing loss. Monoallelic variants in <i>ACTG1</i>, coding for gamma (γ)-actin, are associated with classical Baraitser-Winter Syndrome type 2 (BRWS2, nonsyndromic deafness, and a variety of clinical presentations not fitting the original BRWS2 description or nonsyndromic deafness. Here two unrelated patients with <i>ACTG1</i> variants are reported, having severe hearing loss as a common phenotype but with different clinical presentations, supporting the extreme variability of <i>ACTG1</i>-related disorders.
Authors
- Romina Armando (ORCID: https://orcid.org/0000-0003-2903-9243)
- María Gabriela Ropelato (ORCID: https://orcid.org/0000-0003-0040-1210)
- Byron L. Lam (ORCID: https://orcid.org/0000-0002-1233-2366)
- María Esnaola Azcoiti (ORCID: https://orcid.org/0000-0002-1499-1015)
- Stephanie Bivona (ORCID: https://orcid.org/0009-0001-9824-0306)
- Natalia Vázquez (ORCID: https://orcid.org/0000-0002-3410-2190)
- Memoona Ramzan (ORCID: https://orcid.org/0000-0002-3750-112X)
- Claudia Arberas
- Katherina Walz (ORCID: https://orcid.org/0000-0002-1296-5286)
- Marcelo A. Martí (ORCID: https://orcid.org/0000-0002-7911-9340)
- Fred F. Telischi (ORCID: https://orcid.org/0000-0002-2596-6341)
- Maria Agustina De Rosa
- Maria T. Bernardi
- Franco Salvatore
- Mustafa Tekin
- L.A. Calderón
- Silvina Olha
Institutions
- University of Miami (US)
- Consejo Nacional de Investigaciones Científicas y Técnicas (AR)
- Universidad de Buenos Aires (AR)
- Dr. John T. Macdonald Foundation (US)
- Neurological Surgery (US)
- Hospital General de Niños Ricardo Gutierrez (AR)
- Fundación Ciencias Exactas y Naturales (AR)
Publication Details
- Journal
- Advanced Genetics
- Published
- 2024-12-01
- DOI
- https://doi.org/10.1002/ggn2.202400040
- Citations
- 2
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.47
Funders
- Consejo Nacional de Investigaciones Científicas y Técnicas
- National Institutes of Health
- Agencia Nacional de Promoción Científica y Tecnológica