Korean J Otorhinolaryngol-Head Neck Surg.  2021 Feb;64(2):108-113. 10.3342/kjorl-hns.2020.00304.

Screening of A1555G mDNA Variant Using U-TOP™HL Genotyping Kit in Korean Family with Progressive Hearing Loss

• Ahn JH
• Byun KH
• Jung BK
• Lee MY

• KMID: 2513097
• DOI: http://doi.org/10.3342/kjorl-hns.2020.00304

Abstract

Recently, real-time polymerase chain reaction (PCR) using the U-TOP™HL Genotyping Kit has been introduced to detect genetic hearing loss caused by certain type of gene variants popularly found in Korea. The mitochondrial 12S ribosomal ribonucleic acid (rRNA) genes are related to aminoglycoside induced or non-syndromic, sensorineural hearing loss. Among them, 1555A>G is commonly found and reported worldwide. We are presenting the case of a mother and a son, who were screened by real-time PCR using the U-TOP™HL Genotyping Kit and were found both to have the mitochondrial 12s rRNA 1555A>G variant with a different hearing loss phenotype. This report encourages clinicians to use this or similar screen methods for patients with familial hearing loss.

Keyword

Genetic disease; Hearing loss; Mitochondria