ArticleMolecular genetics & genomic medicine2021
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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Who cites it
6 citing papers in PubMed, 6 citations in OpenAlex.
- Reducing Taperin Expression Restores Hearing in Grxcr2 Mutant Mice.Neuroscience · 2022Article
- Hearing loss in Africa: current genetic profile.Human genetics · 2022Review
- Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.Frontiers in genetics · 2022Article
- N-Terminus of GRXCR2 Interacts With CLIC5 and Is Essential for Auditory Perception.Frontiers in cell and developmental biology · 2021Article
- Murine GRXCR1 Has a Different Function Than GRXCR2 in the Morphogenesis of Stereocilia.Frontiers in cellular neuroscience · 2021Article
- Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
backgroundHearing impairment (HI) genes are poorly studied in African populations.
methodsWe used whole exome sequencing (WES) to investigate pathogenic and likely pathogenic (PLP) variants in 10 individuals with HI, from four multiplex families from Cameroon, two of which were previously unresolved with a targeted gene enrichment (TGE) panel of 116 genes. In silico protein modelling, western blotting and live imaging of transfected HEK293 cells were performed to study protein structure and functions.
resultsAll PLP variants previously identified with TGE were replicated. In one previously unresolved family, we found a homozygous frameshift PLP variant in GRXCR2 (OMIM: 615762), NM_001080516.1(GRXCR2):c.251delC p.(Ile85SerfsTer33), in two affected siblings; and additionally, in 1/80 unrelated individuals affected with non-syndromic hearing impairment (NSHI). The GRXCR2-c.251delC variant introduced a premature stop codon, leading to truncation and loss of a zinc-finger domain. Fluorescence confocal microscopy tracked the wild-type GRXCR2 protein to the cellular membrane, unlike the mutated GRXCR2 protein.
conclusionThis study confirms GRXCR2 as a HI-associated gene. GRXCR2 should be included to the currently available TGE panels for HI diagnosis.
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