Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing Loss

Advanced genetics (Hoboken, N.J.) Pub Date : 2024-12-05 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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听力损失中actg1相关疾病的极端表型变异性。

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。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Advanced genetics (Hoboken, N.J.)

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