Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment - Institut Pasteur
Article Dans Une Revue Journal of Applied Genetics Année : 2024

Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment

Résumé

PJVK gene was recently shown to create hypervulnerability to sound in humans and was the first human gene implicated in non-syndromic hearing impairment due to neural defect. Targeted next-generation sequencing of over 150 known deafness genes was performed in the proband. Sanger sequencing was used to validate the PJVK variant and confirm familial segregation of the disease. A minigene-based assay has been performed to assess the impact of the variant on splicing. We identified a novel c.550-6A > G acceptor splice-site variant in the PJVK gene in the homozygous state in a Mauritanian child with severe to profound congenital deafness. The substitution was located in intron 4. The effect of the variation was demonstrated by a minigene assay which showed that the variation, an insertion of an additional 5 bp, created a new splice site resulting in the appearance of a premature stop codon (p.Phe184Tyrfs*26) and likely a truncated protein. This result constitutes a new splice-site variant report in the PJVK gene leading to DFNB59 type associated with autosomal recessive non-syndromic hearing impairment (ARNSHI).
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pasteur-04691612 , version 1 (09-09-2024)

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Malak Salame, Crystel Bonnet, Amrit Singh-Estivalet, Selma Mohamed Brahim, Solene Roux, et al.. Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment. Journal of Applied Genetics, In press, ⟨10.1007/s13353-024-00903-x⟩. ⟨pasteur-04691612⟩
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