Y L Liu1, L L Wang1, J Wen1, L Y Mei1, C F He1, L Jiang1, Y Feng1. 1. Department of Otolaryngology-Head and Neck Surgery, Province Key Laboratory of Otolaryngology Critical Diseases, Xiangya Hospital, Central South University, Changsha 410008, ChinaFeng Yong is working at the Department of Otolaryngology-Head and Neck Surgery, Changsha Central Hospital, Nanhua University, Changsha 410008, China.
Abstract
Objective: To explore the application value of high-throughput gene detection method of copy number variations (CNV) in the diagnosis of enlarged vestibular aqueduct (EVA). Methods: A total of 46 nonsyndromic hearing loss patients with EVA were recruited between May 2014 and December 2016 from Department of Otolaryngology of Xiangya Hospital, Central South University. A high-throughput multiplex analysis method based on double ligation and multiple fluorescent PCR was designed and performed to detect CNV in the three EVA-related genes (SLC26A4, FOXI1 and KCNJ10). The data were analyzed by GeneMapper v4.1. Healthy volunteers (n=100) were selected as normal controls. Results: A total of 46 EVA patients were detected (32 males, 14 females, aged 1 to 26 years). In 4 EVA patients, deletions of exons 1-3 of SLC26A4 gene (4/46, 8.7%) were detected, which were not reported in the database of genomic variants (DGV), and were absent in 100 normal controls. There was no CNV detected in FOXI1 and KCNJ10 in the study. Conclusions: In the current study, three known EVA-related genes were designed as the target area for CNV detection by high-throughput ligation-dependent probe amplification (HLPA) analysis. This method can be used as a supplementary analysis of point mutation detection of hearing loss, which helps achieve the accurate genetic diagnosis of EVA.
Objective: To explore the application value of high-throughput gene detection method of copy number variations (CNV) in the diagnosis of enlarged vestibular aqueduct (EVA). Methods: A total of 46 nonsyndromic hearing losspatients with EVA were recruited between May 2014 and December 2016 from Department of Otolaryngology of Xiangya Hospital, Central South University. A high-throughput multiplex analysis method based on double ligation and multiple fluorescent PCR was designed and performed to detect CNV in the three EVA-related genes (SLC26A4, FOXI1 and KCNJ10). The data were analyzed by GeneMapper v4.1. Healthy volunteers (n=100) were selected as normal controls. Results: A total of 46 EVA patients were detected (32 males, 14 females, aged 1 to 26 years). In 4 EVA patients, deletions of exons 1-3 of SLC26A4 gene (4/46, 8.7%) were detected, which were not reported in the database of genomic variants (DGV), and were absent in 100 normal controls. There was no CNV detected in FOXI1 and KCNJ10 in the study. Conclusions: In the current study, three known EVA-related genes were designed as the target area for CNV detection by high-throughput ligation-dependent probe amplification (HLPA) analysis. This method can be used as a supplementary analysis of point mutation detection of hearing loss, which helps achieve the accurate genetic diagnosis of EVA.
Entities:
Keywords:
Copy number variation; Ear deformities; Gene deletion; Genetic testing; Hearing loss
Authors: Jeroen J Smits; Suzanne E de Bruijn; Cornelis P Lanting; Jaap Oostrik; Luke O'Gorman; Tuomo Mantere; Frans P M Cremers; Susanne Roosing; Helger G Yntema; Erik de Vrieze; Ronny Derks; Alexander Hoischen; Sjoert A H Pegge; Kornelia Neveling; Ronald J E Pennings; Hannie Kremer Journal: Hum Genet Date: 2021-08-19 Impact factor: 5.881