ArticleMolecular genetics & genomic medicine2020
Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2.European journal of human genetics : EJHG · 2024Article
- Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma.Cureus · 2024Article
- Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.Human genetics · 2022Review
- Connexin30-Deficiency Causes Mild Hearing Loss With the Reduction of Endocochlear Potential and ATP Release.Frontiers in cellular neuroscience · 2021Article
- Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.Life (Basel, Switzerland) · 2020Review
- Screening for deafness-associated mitochondrial 12S rRNA mutations by using a multiplex allele-specific PCR method.Bioscience reports · 2020Article
- Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundMutations involving the closely linked GJB2 and GJB6 at the DFNB1 locus are a common genetic cause of profound congenital hearing loss in many populations. In some deaf GJB2 heterozygotes, a 309 kb deletion involving the GJB6 has been found to be the cause for hearing loss when inherited in trans to a GJB2 mutation.
methodsWe screened 2,376 probands from a National DNA Repository of deaf individuals.
resultsFifty-two of 318 heterozygous probands with pathogenic GJB2 sequence variants had a GJB6 deletion. Additionally, eight probands had an isolated heterozygous GJB6 deletion that did not explain their hearing loss. In two deaf subjects, including one proband, a homozygous GJB6 deletion was the cause for their hearing loss, a rare occurrence not reported to date.
conclusionThis study represents the largest US cohort of deaf individuals harboring GJB2 and GJB6 variants, including unique subsets of families with deaf parents. Testing additional members to clarify the phase of GJB2/GJB6 variants in multiplex families was crucial in interpreting clinical significance of the variants in the proband. It highlights the importance of determining the phase of GJB2/GJB6 variants when interpreting molecular test results especially in multiplex families with assortative mating.
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