Journal
CLINICAL GENETICS
Volume 93, Issue 4, Pages 812-821Publisher
WILEY
DOI: 10.1111/cge.13170
Keywords
CIB2; deafness; DFNB48; non-syndromic hearing loss; USH1J; Usher syndrome
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Funding
- National Institute on Deafness and Other Communication Disorders [DC002842, DC003544, DC012049, DC009645]
- Iran National Science Foundation [95S47307]
- NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS [R01DC012049, R01DC002842, R01DC009645, R01DC012836, R01DC003544] Funding Source: NIH RePORTER
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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 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 (LOF) variants, 2 families segregated missense variants (1 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 LOF 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.
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