Tóth Tímea, Pfister Markus, Zenner Hans-Peter, Sziklai Istvan
Medical and Health Science Center, ORL Clinic, University of Debrecen, Hungary.
Int J Pediatr Otorhinolaryngol. 2006 Feb;70(2):201-6. doi: 10.1016/j.ijporl.2005.06.011. Epub 2005 Jul 25.
Only three autosomal dominant hearing loss loci (DFNA1, DFNA6/14/38 and DFNA54) have been reported to be associated with predominantly low-frequency (<2kHz) sensorineural hearing impairment (LFSNHI). The DFNA6 locus was previously mapped to chromosome 4p16.3. It was showed that WFS1 is located in this region. This study presents a six-generation family from Hungary with nonsyndromic, post-lingual, bilateral, symmetric, progressive LFSNHI, that discloses positive linkage to the DFNA6 region. Eleven genetically affected family members have LFSNHI. The HI is started before the age of 25 years. The severity of HI varies from mild to moderate, related to age. Progression was mild but significant at all frequencies causing a flat type audiogram. High-resolution temporal bone CT scan showed normal external, middle and inner ear without any osseus malformations in the temporal bone. Studying genotype-phenotype correlations will enhance our understanding of normal and disturbed hearing process.
据报道，仅有三个常染色体显性遗传性听力损失位点（DFNA1、DFNA6/14/38和DFNA54）主要与低频（<2kHz）感音神经性听力障碍（LFSNHI）相关。DFNA6位点先前被定位到4号染色体p16.3区域。研究表明WFS1位于该区域。本研究展示了一个来自匈牙利的六代家族，其患有非综合征性、语言发育后出现的、双侧对称的进行性LFSNHI，该家族与DFNA6区域存在正向连锁关系。11名受遗传影响的家族成员患有LFSNHI。听力损失在25岁之前开始。听力损失的严重程度从轻度到中度不等，与年龄相关。进展较为轻微，但在所有频率上均有显著变化，导致听力图呈平坦型。高分辨率颞骨CT扫描显示颞骨的外耳、中耳和内耳正常，无任何骨质畸形。研究基因型与表型的相关性将增进我们对正常和异常听力过程的理解。
