Variants in CIB2 cause DFNB48 and not USH1J

Kevin T Booth; Kimia Kahrizi; Mojgan Babanejad; Hossein Daghagh; Guney Bademci; Sanaz Arzhangi; Davood Zareabdollahi; Duygu Duman; Aziz El-Amraoui; Mustafa Tekin; Hossein Najmabadi; Hela Azaiez; Richard J Smith

doi:10.1111/cge.13170

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Variants in CIB2 cause DFNB48 and not USH1J

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Variants in CIB2 cause DFNB48 and not USH1J

Kevin T Booth, Kimia Kahrizi, Mojgan Babanejad, Hossein Daghagh, Guney Bademci, Sanaz Arzhangi, Davood Zareabdollahi, Duygu Duman, Aziz El-Amraoui, Mustafa Tekin, …

Clinical genetics, Vol.93(4), pp.812-821

04/2018

DOI: 10.1111/cge.13170

PMCID: PMC5851821

PMID: 29112224

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Abstract

The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher Syndrome (USH). Variants in the CIB2 gene have been previously reported to cause of hearing loss at the DFNB48 locus and deaf-blindness at the USH1J locus. In this study, we characterize the phenotypic spectrum in a multiethnic cohort with autosomal recessive non-syndromic hearing loss (ARNSHL) due to variants in the CIB2 gene. Of the 6 families we ascertained, 3 segregated novel loss-of-function variants, 2 families segregated missense variants (one novel) and 1 family segregated a previously reported pathogenic variant in trans with a frameshift variant. This report is the first to show that biallelic loss of function variants in CIB2 cause ARNSHL and not USH. In the era of precision medicine, providing the correct diagnosis (NSHL vs USH) is essential for patient care as it impacts potential intervention and prevention options for patients. Here we provide evidence disqualifying CIB2 as an USH-causing gene.

CIB2

DFNB48

Non-syndromic hearing loss

deafness

Usher syndrome

USH1J

Details

Title: Subtitle: Variants in CIB2 cause DFNB48 and not USH1J
Creators: Kevin T Booth
Kimia Kahrizi
Mojgan Babanejad
Hossein Daghagh
Guney Bademci
Sanaz Arzhangi
Davood Zareabdollahi
Duygu Duman
Aziz El-Amraoui
Mustafa Tekin
Hossein Najmabadi
Hela Azaiez
Richard J Smith
Resource Type: Journal article
Publication Details: Clinical genetics, Vol.93(4), pp.812-821
DOI: 10.1111/cge.13170
PMID: 29112224
PMCID: PMC5851821
NLM abbreviation: Clin Genet
ISSN: 0009-9163
eISSN: 1399-0004
Grant note: DOI: 10.13039/100000055, name: National Institute on Deafness and Other Communication Disorders, award: DC002842, DC003544, DC012049 and DC009645; DOI: 10.13039/501100003968, name: Iran National Science Foundation, award: 95S47307
Language: English
Date published: 04/2018
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984007286502771

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