Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families

BioMed Research International
Xiaohui BaiLei Xu

Abstract

Hearing loss is one of the most common sensory disorders in newborns and is mostly caused by genetic factors. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is usually characterized as a severe-to-profound congenital sensorineural hearing loss and later can cause various degrees of defect in the language and intelligent development of newborns. The mutations in LOXHD1 gene have been shown to cause DFNB77, a type of ARNSHL. To date, there are limited reports about the association between LOXHD1 gene and ARNSHL. In this study, we reported six patients from four Chinese families suffering from severe-to-profound nonsyndromic hearing loss. We performed targeted next generation sequencing in the six affected members and identified five novel pathogenic mutations in LOXHD1 including c.277G>A (p.D93N), c.611-2A>T, c.1255+3A>G, c.2329C>T (p.Q777 ∗ ), and c.5888delG (p.G1963Afs ∗ 136). These mutations were confirmed to be cosegregated with the hearing impairment in the families by Sanger sequencing and were inherited in an autosomal recessive pattern. All of the five mutations were absent in 200 control subjects. There were no symptoms of Fuchs corneal dystrophy in the probands and their blood-related relatives. We concluded...Continue Reading

References

Sep 1, 1993·Survey of Ophthalmology·A P AdamisR C Tripathi
May 19, 2006·The New England Journal of Medicine·Cynthia C Morton, Walter E Nance
Apr 6, 2011·American Journal of Medical Genetics. Part a·S EdvardsonO Elpeleg
Oct 4, 2011·Clinical Ophthalmology·Marilette StehouwerAllegonda Van der Lelij
Feb 22, 2012·American Journal of Human Genetics·S Amer RiazuddinJohn D Gottsch
Sep 15, 2012·Hearing Research·Robert W EppsteinerRichard J H Smith
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Mar 21, 2015·The Annals of Otology, Rhinology, and Laryngology·Kentaro MoriShin-Ichi Usami
Mar 13, 2016·Human Genetics·Christina M Sloan-HeggenRichard J H Smith
Apr 29, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Mohamed AbouelhodaFowzan S Alkuraya
Dec 14, 2016·The New England Journal of Medicine·Jennifer E PoseyJames R Lupski
Oct 7, 2017·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Pavlina PlevovaEva Mrazkova
Aug 21, 2018·Neural Plasticity·Songqun HuLuping Zhang
Aug 25, 2018·European Journal of Human Genetics : EJHG·Nada Danial-FarranStavit A Shalev

❮ Previous
Next ❯

Software Mentioned

SIFT
SeqMan
BWA
Lasergene
Mutation Taster
PolyPhen2

Related Concepts

Related Feeds

Auditory Perception

Auditory perception is the ability to receive and interpret information attained by the ears. Here is the latest research on factors and underlying mechanisms that influence auditory perception.