35delG 突变的异常表型：一例报告。
Unusual phenotype in 35delG mutation: a case report.
机构信息
Faculty of Health Sciences, Department of Audiology, İstanbul University-Cerrahpaşa, Istanbul, Türkiye.
Faculty of Medicine, Department of Otolaryngology, Istanbul Medipol University, Istanbul, Türkiye.
出版信息
J Med Case Rep. 2024 May 12;18(1):241. doi: 10.1186/s13256-024-04559-3.
BACKGROUND
Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the primary causes of prelingual nonsyndromic hearing loss in various populations. The 35delG mutation, one of the most common mutations of the GJB2 gene, usually causes prelingual, bilateral mild to profound, nonprogressive sensorineural hearing loss.
CASE PRESENTATION
We present an unusual case of an 18-year-old Turkish female with heterozygous 35delG mutation and postlingual, profound-sloping, progressive and fluctuating unilateral sensorineural hearing loss. The phenotype is different from the usual findings.
CONCLUSIONS
The 35delG mutation causing hearing loss may not always be reflected in the phenotype as expected and therefore may have different audiologic manifestations.
背景
GJB2 基因编码连接蛋白 26，与内耳稳态有关，该基因突变约占常染色体隐性非综合征型听力损失患者的 50%，是不同人群中导致语前非综合征型听力损失的主要原因之一。35delG 突变是 GJB2 基因最常见的突变之一，通常导致语前、双侧轻度至重度、进行性非进展性感觉神经性听力损失。
病例介绍
我们报告了一个不常见的土耳其 18 岁女性病例，该女性杂合子携带 35delG 突变，表现为语后、重度、陡坡型、进行性和波动性单侧感觉神经性听力损失。表型与常见发现不同。
结论
导致听力损失的 35delG 突变可能并不总是如预期的那样反映在表型中，因此可能具有不同的听力表现。
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