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

Advanced genetics (Hoboken, N.J.) Pub Date : 2024-12-05 eCollection Date: 2024-12-01 DOI:10.1002/ggn2.202400040

Maria T Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A Marti, Claudia Arberas, Maria Gabriela Ropelato, Silvina Olha, Byron L Lam, Fred F Telischi, Mustafa Tekin, Katherina Walz

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Abstract

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 ACTG1, 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 ACTG1 variants are reported, having severe hearing loss as a common phenotype but with different clinical presentations, supporting the extreme variability of ACTG1-related disorders.

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听力损失是人类最常见的感官缺陷，会影响正常的交流。在大多数情况下，听力损失是一种由遗传和环境因素引起的多因素疾病，但单基因突变可导致综合征或非综合征性听力损失。ACTG1编码γ（γ）-肌动蛋白，其单倍变异与典型的巴雷泽-温特综合征2型（BRWS2）、非综合征性耳聋以及与最初的BRWS2描述或非综合征性耳聋不符的各种临床表现有关。本文报告了两名无亲属关系的 ACTG1 变异患者，他们的共同表型是重度听力损失，但临床表现却各不相同，这证明了 ACTG1 相关疾病的极端变异性。

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