Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment

Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified. Recently, TMEM132E, which is highly expressed in inner hair cells, was suggested as a novel ARNSHI gene for DFNB99. A missense variant c.1259G>A: p.(Arg42...

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Bibliographic Details
Published in:Journal of human genetics 2020-01, Vol.65 (2), p.187-192
Main Authors: Liaqat, Khurram, Hussain, Shabir, Bilal, Muhammad, Nasir, Abdul, Acharya, Anushree, Ali, Raja Hussain, Nawaz, Shoaib, Umair, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M
Format: Article
Language:English
Subjects:
Asian Continental Ancestry Group
Brief Communication
Deafness - diagnosis
Deafness - genetics
Deoxyribonucleic acid
DNA
Etiology
Exome - genetics
Female
Genes
Genes, Recessive
Genetics
Genomes
Genomics
Hair cells
Hearing loss
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - genetics
Heredity
Heterozygote
Humans
Male
Membrane Proteins - genetics
Models, Molecular
Mutation, Missense
Pedigree
Proteins
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Summary:Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified. Recently, TMEM132E, which is highly expressed in inner hair cells, was suggested as a novel ARNSHI gene for DFNB99. A missense variant c.1259G>A: p.(Arg420Gln) in TMEM132E was identified that segregated with ARNSHI in a single Chinese family with two affected members. In the present study, a family of Pakistani origin with prelingual profound sensorineural hearing impairment displaying AR mode of inheritance was investigated via exome and Sanger sequencing. Compound heterozygous variants c.382G>T: p.(Ala128Ser) and c.2204C>T: p.(Pro735Leu) in TMEM132E were observed in affected but not in unaffected family members. TMEM132E variants identified in this and the previously reported ARNSHI family are located in the extracellular domain. In conclusion, we present a second ARNSHI family with TMEM132E variants which strengthens the evidence of the involvement of this gene in the etiology of ARNSHI.
ISSN:1434-5161
1435-232X
DOI:10.1038/s10038-019-0691-4