Mutations in LOXHD1 gene cause various types and severities of hearing loss

The Annals of Otology, Rhinology, and Laryngology
Kentaro MoriShin-Ichi Usami

Abstract

We present 2 families that were identified with novel mutations in LOXHD1 as a cause of nonprogressive hearing loss. One thousand three hundred fourteen (1314) Japanese subjects with sensorineural hearing loss from unrelated families were enrolled in the study. Targeted genomic enrichment and massively parallel sequencing of all known nonsyndromic hearing loss genes were performed to identify the genetic cause of hearing loss. Two patients in 1 family affected with homozygous mutation c.879+1G>A in LOXHD1 showed profound congenital hearing loss, whereas 2 patients in another family with compound heterozygous mutations, c.5869G>T (p.E1957X) and c.4480C>T (p.R1494X), showed moderate to severe hearing loss. Mutations in LOXHD1 are extremely rare, and these cases are the first identified in a Japanese population. The genotype-phenotype correlation in LOXHD1 is still unclear. The differences in phenotypes in each patient might be the result of the nature of the mutations or the location on the gene, or be influenced by a genetic modifier.

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Citations

Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Nov 12, 2019·The Journal of International Medical Research·Chuan ZhangQinghua Zhang
Oct 28, 2019·Cochlear Implants International·Leslie P Molina-RamirezGraeme C M Black
Feb 7, 2020·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shin-Ichi UsamiHidekane Yoshimura
May 14, 2021·Human Genetics·Marjo K HytönenHannes Lohi

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Methods Mentioned

BETA
PLAT
electrophoresis
PCR
cochlear implant

Software Mentioned

Picard
Polymorphism Phenotyping
NGSRich
GERP
Galaxy
PhyloP
Sciclone
Sorting
ANNOVAR
LRT

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