Salvinelli Fabrizio, Casale Manuele, D'Ascanio Luca, Firrisi Luca, Greco Fabio, Baldi Alfonso
Area of Otolaryngology, University Campus Bio-Medico, Rome, Italy.
J Laryngol Otol. 2004 Jan;118(1):8-11. doi: 10.1258/002221504322731547.
35delG is the most common mutation in the Connexin-26 gene, representing a major cause of autosomal recessive hearing loss. The aim of this study was to evaluate the relationship between the audiological phenotype and the 35delG mutation in 64 Sicilians with non-syndromic deafness. Pure-tone audiometry and a screening for 35delG mutation were performed. Audiograms were evaluated according to the classification of Liu and Xu. Thirteen homozygotes and nine heterozygotes for the investigated mutation were found. Symmetrical hearing loss was significantly (p=0.008) more common in homozygous subjects than in those without the Connexin-26 mutation. Profound-severe hypoacusia was found in 92.3 per cent of 35delG homozygous, 22.3 per cent of heterozygous and 58.7 per cent of 35delG absent patients. Residual shape audiograms were more frequent in homozygotes. A molecular analysis for the 35delG mutation should be performed in cases of symmetric, severe-profound congenital hearing loss, as a genetic cause is probable in such cases.
35delG是连接蛋白26基因中最常见的突变，是常染色体隐性遗传性听力损失的主要原因。本研究旨在评估64名患有非综合征性耳聋的西西里人的听力学表型与35delG突变之间的关系。进行了纯音听力测定和35delG突变筛查。根据Liu和Xu的分类评估听力图。发现了13名该研究突变的纯合子和9名杂合子。与没有连接蛋白26突变的受试者相比，纯合子受试者中对称性听力损失显著更常见（p=0.008）。在35delG纯合子患者中有92.3%、杂合子患者中有22.3%以及无35delG突变患者中有58.7%出现极重度听力减退。残余型听力图在纯合子中更为常见。对于对称性、重度至极重度先天性听力损失病例，应进行35delG突变的分子分析，因为此类病例很可能存在遗传原因。
