背景:GJB2基因突变,它编码蛋白连接蛋白26,并参与内耳稳态,在大约50%的常染色体隐性遗传非综合征性听力损失患者中发现,使其成为各种人群的舌前非综合征性听力损失的主要原因之一。35delG突变,GJB2基因最常见的突变之一,通常导致语前,双侧轻度至深度,非进行性感觉神经性听力损失。
方法:我们介绍了一个不寻常的案例,一个18岁的土耳其女性,具有杂合35delG突变和语言后,深刻的倾斜,进行性和波动性单侧感觉神经性听力损失。表型不同于通常的发现。
结论:引起听力损失的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学表现。
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.
METHODS: 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.