Silva Magali Aparecida Orate Menezes da, Piatto Vânia Belintani, Maniglia Jose Victor
Department of Otorhinolaryngology and Head and Neck Surgery, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, SP, Brazil.
Department of Anatomy, Faculdade de Medicina de São José do Rio Preto (FAMERP), São José do Rio Preto, SP, Brazil.
Braz J Otorhinolaryngol. 2015 May-Jun;81(3):321-8. doi: 10.1016/j.bjorl.2015.03.005. Epub 2015 Mar 30.
Mutations in the otoferlin gene are responsible for auditory neuropathy.
To investigate the prevalence of mutations in the mutations in the otoferlin gene in patients with and without auditory neuropathy.
This original cross-sectional case study evaluated 16 index cases with auditory neuropathy, 13 patients with sensorineural hearing loss, and 20 normal-hearing subjects. DNA was extracted from peripheral blood leukocytes, and the mutations in the otoferlin gene sites were amplified by polymerase chain reaction/restriction fragment length polymorphism.
The 16 index cases included nine (56%) females and seven (44%) males. The 13 deaf patients comprised seven (54%) males and six (46%) females. Among the 20 normal-hearing subjects, 13 (65%) were males and seven were (35%) females. Thirteen (81%) index cases had wild-type genotype (AA) and three (19%) had the heterozygous AG genotype for IVS8-2A-G (intron 8) mutation. The 5473C-G (exon 44) mutation was found in a heterozygous state (CG) in seven (44%) index cases and nine (56%) had the wild-type allele (CC). Of these mutants, two (25%) were compound heterozygotes for the mutations found in intron 8 and exon 44. All patients with sensorineural hearing loss and normal-hearing individuals did not have mutations (100%).
There are differences at the molecular level in patients with and without auditory neuropathy.
otoferlin基因的突变是导致听觉神经病的原因。
研究有无听觉神经病患者中otoferlin基因突变的发生率。
这项原始的横断面病例研究评估了16例听觉神经病患者、13例感音神经性听力损失患者和20名听力正常的受试者。从外周血白细胞中提取DNA，通过聚合酶链反应/限制性片段长度多态性扩增otoferlin基因位点的突变。
16例患者中包括9名（56%）女性和7名（44%）男性。13名聋患者包括7名（54%）男性和6名（46%）女性。在20名听力正常的受试者中，13名（65%）为男性，7名（35%）为女性。13例（81%）患者具有野生型基因型（AA），3例（19%）具有IVS8-2A-G（内含子8）突变的杂合AG基因型。在7例（44%）患者中发现5473C-G（外显子44）突变呈杂合状态（CG），9例（56%）具有野生型等位基因（CC）。在这些突变体中，2例（25%）为内含子8和外显子44中发现的突变的复合杂合子。所有感音神经性听力损失患者和听力正常个体均无突变（100%）。
有无听觉神经病的患者在分子水平上存在差异。
