Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.

Bong Jik KimDoo-Yi OhJin Hee HanJayoung OhMin Young KimHye-Rim ParkJungirl SeokSung-Dong ChoSang-Yeon LeeYoonjoong KimMarge CarandangIn Sun KwonSeungmin LeeJeong Hun JangYun-Hoon ChoungSejoon LeeHakmin LeeSang Mee HwangByung Yoon Choi

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Approximately two-thirds of sporadic pediatric mild-to-moderate SNHL have a clear Mendelian genetic etiology, and one-third is associated with CNVs involving STRC. Based on this, we propose a new guideline for molecular diagnosis of these children.

Keyphrases

hearing loss
genome wide
young adults
copy number
late onset
single molecule
amyotrophic lateral sclerosis
early onset