ArticleBMC medical genomics2021
A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.
Article in BMC medical genomics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.Journal of applied genetics · 2025Article
- Unraveling the Functional Impact of Splicing Variants in Inherited Hearing Disorders Through Minigene Splicing Assays.Biomedicines · 2025Article
- Association of R1939W and P1987R variants ofPakistan journal of medical sciencesArticle
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Authors and funding
8 authors at 2 institutions in 2 countries.
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Abstract
backgroundHearing loss/deafness is a common otological disorder found in the Pakistani population due to the high prevalence of consanguineous unions, but the full range of genetic causes is still unknown.
methodsA large consanguineous Pakistani kindred with hearing loss was studied. Whole-exome sequencing and Sanger sequencing were performed to search for the candidate gene underlying the disease phenotype. A minigene assay and reverse transcription polymerase chain reaction was used to assess the effect of splicing variants.
resultsThe splicing variants of OTOF (NM_194248, c.3289-1G>T) cosegregated with the disease phenotype in this Pakistani family. The substitution of a single base pair causes the deletion of 10 bp (splicing variant 1) or 13 bp (splicing variant 2) from exon 27, which results in truncated proteins of 1141 and 1140 amino acids, respectively.
conclusionOur findings reveal an OTOF splice-site variant as pathogenic for profound hearing loss in this family.
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