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听力损失相关疾病的极端表型变异性。

Extreme Phenotypic Variability of -Related Disorders in Hearing Loss.

作者信息

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

机构信息

Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET Buenos Aires 1428 Argentina.

John P. Hussman Institute for Human Genomics University of Miami Miller School of Medicine Miami FL 33136 USA.

出版信息

Adv Genet (Hoboken). 2024 Dec 5;5(4):2400040. doi: 10.1002/ggn2.202400040. eCollection 2024 Dec.

DOI:10.1002/ggn2.202400040
PMID:39734360
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11672310/
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 , 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 variants are reported, having severe hearing loss as a common phenotype but with different clinical presentations, supporting the extreme variability of -related disorders.

摘要

听力损失是人类最常见的感觉缺陷，会影响正常交流。在大多数情况下，听力损失是一种由遗传和环境因素共同导致的多因素疾病，但单基因突变可导致综合征性或非综合征性听力损失。编码γ（γ）-肌动蛋白的基因中的单等位基因变异与经典的2型巴拉伊泽-温特综合征（BRWS2，非综合征性耳聋）以及各种不符合原始BRWS2描述的临床表现或非综合征性耳聋有关。本文报道了两名携带该基因变异的无关患者，他们都有严重听力损失这一共同表型，但临床表现不同，这支持了该基因相关疾病的极端变异性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99b0/11672310/5da42629618e/GGN2-5-2400040-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99b0/11672310/5da42629618e/GGN2-5-2400040-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/99b0/11672310/5da42629618e/GGN2-5-2400040-g002.jpg

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本文引用的文献

1
Hearing Loss in Baraitser-Winter Syndrome: Case Reports and Review of the Literature.巴赖特瑟-温特综合征中的听力损失：病例报告及文献综述
J Clin Med. 2024 Mar 5;13(5):1500. doi: 10.3390/jcm13051500.
2
Accurate proteome-wide missense variant effect prediction with AlphaMissense.使用 AlphaMissense 进行精确的全蛋白质错义变异效应预测。
Science. 2023 Sep 22;381(6664):eadg7492. doi: 10.1126/science.adg7492.
3
The actin cytoskeleton in hair bundle development and hearing loss.毛细胞发育和听力损失中的肌动蛋白细胞骨架。
Hear Res. 2023 Sep 1;436:108817. doi: 10.1016/j.heares.2023.108817. Epub 2023 May 26.
4
DDMut: predicting effects of mutations on protein stability using deep learning.DDMut：使用深度学习预测突变对蛋白质稳定性的影响。
Nucleic Acids Res. 2023 Jul 5;51(W1):W122-W128. doi: 10.1093/nar/gkad472.
5
Structural insights into actin isoforms.肌动蛋白同工型的结构见解。
Elife. 2023 Feb 15;12:e82015. doi: 10.7554/eLife.82015.
6
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.DFNA20/26及其他与ACTG1相关的表型：一例病例报告及文献综述
Audiol Res. 2021 Oct 18;11(4):582-593. doi: 10.3390/audiolres11040052.
7
Previously undescribed phenotypic findings and novel ACTG1 gene pathogenic variants in Baraitser-Winter cerebrofrontofacial syndrome.Baraitser-Winter脑额面综合征中先前未描述的表型发现及新的ACTG1基因致病变异
Eur J Med Genet. 2020 May;63(5):103877. doi: 10.1016/j.ejmg.2020.103877. Epub 2020 Feb 3.
8
Regulation of actin isoforms in cellular and developmental processes.细胞和发育过程中肌动蛋白异构体的调控。
Semin Cell Dev Biol. 2020 Jun;102:113-121. doi: 10.1016/j.semcdb.2019.12.003. Epub 2020 Jan 27.
9
ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.ClinGen 对 164 个听力损失基因-疾病对进行专家临床有效性评估。
Genet Med. 2019 Oct;21(10):2239-2247. doi: 10.1038/s41436-019-0487-0. Epub 2019 Mar 21.
10
Are non-muscle actin isoforms functionally equivalent?非肌肉肌动蛋白同工型在功能上等效吗？
Histol Histopathol. 2017 Nov;32(11):1125-1139. doi: 10.14670/HH-11-896. Epub 2017 Apr 25.