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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http://dx.doi.org/10.1007/s13353-024-00903-x | DOI Listing |
HGG Adv
December 2024
Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, South Africa; Mckusick Nathans Institute and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:
Laryngoscope Investig Otolaryngol
December 2024
Department of Otolaryngology Head & Neck Surgery University of Minnesota Minneapolis Minnesota USA.
Objectives: Sensorineural hearing loss (SNHL) is a disorder characterized by the loss or impairment of cochlear hair cells or the auditory nerve. In recent years, gene therapy has emerged as a promising approach for SNHL treatment. The objective of this study is to evaluate the impact of gene therapy on the restoration or improvement of auditory function in mouse model with loss or impairment of hearing.
View Article and Find Full Text PDFJ Appl Genet
September 2024
Unité de Recherche Sur Les Biomarqueurs Dans La Population Mauritanienne, UN-FST, Nouakchott, Mauritania.
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.
View Article and Find Full Text PDFClin Genet
December 2024
Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.
Oncol Lett
February 2024
Department of Urology, Fujian Medical University Union Hospital, Fuzhou, Fujian 350000, P.R. China.
Gasdermin (GSDM) family members are involved in numerous biological processes, including pyroptosis, as well as in the initiation and progression of various types of cancer. However, the specific role of GSDM genes in clear cell renal cell carcinoma (ccRCC) has yet to be fully clarified. The present study investigated the differential expression and genetic alterations GSDM genes, their effects on prognosis and immune modulation, and their functional enrichment in ccRCC.
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