Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Frontiers in Genetics
Jinxia AnSantasree Banerjee

Abstract

Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of hereditary hearing impairment. Genotypically and phenotypically NSHL is extremely heterogenous and follow either autosomal dominant or autosomal recessive or X-linked mode of inheritance. Presently, 127 genes have been identified to be associated with both syndromic and (NSHL). Here, we studied a Chinese family with moderate and profound hearing impairment. The proband is a 30-year old Chinese man. The proband was born with normal hearing and at the age of 5-years, the proband was first noticed with hearing impairment. Gradually and progressively the proband was presented with loss of hearing in his both right and left ears at the age of 30 years. The clinical symptoms, age of onset or progression to loss of hearing was similar in both the proband and his younger brother. The proband's parents are phenotypically normal and non-consanguineous. Clinical diagnosis of the proband and his younger brother has been done by classical pure tone audiogram (PTA). Computed Tomography (CT) found no abnormality in bilateral external ear, middle ear and inner ear. Targete...Continue Reading

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Citations

Aug 24, 2019·Current Neurology and Neuroscience Reports·Mary XylakiTiago Fleming Outeiro
Feb 23, 2020·Expert Review of Molecular Diagnostics·Silvia RavalliGiuseppe Musumeci
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Datasets Mentioned

BETA
HRA000028

Methods Mentioned

BETA
gene panel

Software Mentioned

Burrows Wheeler Aligner ( BWA
BWA
SOAPsnp
Sam tools pileup
Illumina Pipeline

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