Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12311, Egypt.
J Mol Neurosci. 2024 Oct 28;74(4):102. doi: 10.1007/s12031-024-02279-3.
Hearing loss (HL) is one of the most common health problems worldwide. Autosomal recessive non-syndromic sensorineural hearing loss (ARNSHL) represents a large portion of congenital hereditary HL. Our study was conducted on 13 patients from 13 unrelated families. The majority of patients presented with congenital severe to profound bilateral sensorineural HL. All patients were subjected to detailed family history and three-generation pedigree analysis to exclude any environmental cause and to ensure an autosomal recessive mode of inheritance. Molecular analysis was performed using the whole exome sequencing (WES) technique for the recruited patients. Three variants in the MYO7A and OTOF genes were reported for the first time in patients with ARNSHL (one nonsense, one frameshift, and one splice variant). Ten previously reported variants were detected in seven genes (GJB2, MYO15A, BSND, OTOF, CDH23, SLC26A4, and TMIE). They varied between missense, nonsense, frameshift, and splice variants. This study expands the molecular spectrum of two types of autosomal recessive deafness (types 2 and 9).
听力损失（HL）是全球最常见的健康问题之一。常染色体隐性非综合征性感音神经性听力损失（ARNSHL）占先天性遗传性 HL 的很大一部分。我们的研究对象是来自 13 个无关家庭的 13 名患者。大多数患者表现为先天性重度至极重度双侧感音神经性 HL。所有患者均接受详细的家族史和三代系谱分析，以排除任何环境因素，并确保常染色体隐性遗传方式。对招募的患者使用全外显子组测序（WES）技术进行分子分析。在 ARNSHL 患者中首次报道了 MYO7A 和 OTOF 基因中的三个变异（一个无义，一个移码，一个剪接变异）。在七个基因（GJB2、MYO15A、BSND、OTOF、CDH23、SLC26A4 和 TMIE）中检测到 10 个先前报道的变异。它们在错义、无义、移码和剪接变异之间变化。本研究扩展了两种常染色体隐性耳聋（类型 2 和 9）的分子谱。
