Hegde Smita, Hegde Rajat, Kulkarni Suyamindra S, Das Kusal K, Gai Pramod B, Bulagouda Rudragouda S
Human Genetics Laboratory, Department of Anatomy, Shri B.M. Patil Medical College, Hospital and Research Centre, BLDE University (Deemed to be University), Vijayapura, Karnataka, India.
Division of Human Genetics, Karnataka Institute for DNA Research, Dharwad, Karnataka, India.
Glob Med Genet. 2022 Jun 13;9(2):152-158. doi: 10.1055/s-0042-1743257. eCollection 2022 Jun.
The goal of this research was to investigate the gap junction beta 2 ( ) gene mutations associated with nonsyndromic hearing loss individuals in North Karnataka, India. For this study, patients with sensorineural genetic hearing abnormalities and a family history of deafness were included. A total of 35 patients from 20 families have been included in the study. The patient's DNA was isolated from peripheral blood samples. The gene coding region was analyzed through Sanger sequencing. There is no changes in the first exon of the gene. Nine different variants were recorded in second exon of the targeted gene. W24X and W77X are two nonsense mutations and three polymorphisms viz. R127H, V153I, and I33T were reported along with four 3'-UTR variants. A total (9/20) of 45% of families have been identified with mutations in the targeted gene. mutations were identified in 19 deaf-mute patients (19/35), and 13 patients were homozygous for the mutations identified in our study cohort. In our study, W24X mutation was found to be the pathogenic with a high percentage, prompting further evaluation of the other genes, along with the study of additional genetic or external causes in the families, which is essential.
本研究的目的是调查印度北卡纳塔克邦非综合征性听力损失个体中缝隙连接蛋白β2（ ）基因突变情况。 本研究纳入了患有感音神经性遗传性听力异常且有耳聋家族史的患者。共有来自20个家庭的35名患者被纳入研究。从外周血样本中分离患者的DNA。通过桑格测序分析该 基因的编码区。 该 基因的第一个外显子没有变化。在目标基因的第二个外显子中记录到9种不同的变异。W24X和W77X是两个无义突变，还报告了三个多态性位点，即R127H、V153I和I33T，以及四个3'-UTR变异。总共（9/20）45%的家庭被确定在目标基因中有突变。 在19名聋哑患者（19/35）中鉴定出 突变，13名患者在我们的研究队列中鉴定出的突变是纯合的。在我们的研究中，发现W24X突变具有较高比例的致病性，这促使对其他基因进行进一步评估，同时研究家庭中的其他遗传或外部原因，这是至关重要的。
