Publications by authors named "Sarosiak A"
Zebrafish in-vivo study reveals deleterious activity of human TBC1D24 genetic variants linked with autosomal dominant hearing loss.
Biochim Biophys Acta Mol Basis Dis
February 2025
Article Synopsis
- Genetic variants in the TBC1D24 gene are linked to non-syndromic autosomal dominant hearing loss (ADHL), but their molecular mechanisms remain unclear.
- Researchers used zebrafish to study TBC1D24's role in hearing and how specific harmful mutations affect its function.
- Experiment results showed that knocking down TBC1D24 led to ear structure defects and movement issues in zebrafish embryos, with harmful mutations interfering more than normal gene expression, thus pinpointing TBC1D24's critical role in inner ear development and ciliary function.
Novel hearing loss (HL) genes are constantly being discovered, and evidence from independent studies is essential to strengthen their position as causes of hereditary HL. To address this issue, we searched our genetic data of families with autosomal dominant HL (ADHL) who had been tested with high-throughput DNA sequencing methods. For CD164, only one pathogenic variant in one family has so far been reported.
View Article and Find Full Text PDFSeveral TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked with postlingual progressive autosomal dominant HL (ADHL). To determine the role of TBC1D24 in the development of ADHL and to characterize the TBC1D24-related ADHL, clinical exome sequencing or targeted multigene (n = 237) panel were performed for probands (n = 102) from multigenerational ADHL families.
View Article and Find Full Text PDFBackground: Genetically determined prelingual hearing loss (HL) may occur in an isolated or syndromic form.
Objective: The aim of the study was to unravel the genetic cause of medical problems in a 21-year-old woman, whose phenotypic presentation extended beyond Stickler syndrome and included enlarged vestibular aqueduct (EVA) and persistent microhematuria.
Methods And Results: After sequencing of clinical exome, a known de novo COL2A1 pathogenic variant (c.
Purpose: Schnyder corneal dystrophy (SCD) is a rare autosomal dominant disorder characterized by corneal lipid accumulation and caused by UBIAD1 pathogenic variants. UBIAD1 encodes a vitamin K (VK) biosynthetic enzyme. To assess the corneal and vascular VK status in SCD patients, we focused on matrix Gla protein (MGP), a VK-dependent protein.
View Article and Find Full Text PDFArticle Synopsis
- - The study focuses on the PTPRQ gene, previously linked to autosomal recessive non-syndromic hearing loss, and confirms its association with autosomal dominant non-syndromic hearing loss (ADNSHL) in a five-generation Polish family, identifying the same pathogenic variant (c.6881G>A) found in a German family.
- - Comprehensive analysis including audiological and genetic testing revealed that, unlike the recessive form, PTPRQ-related ADNSHL does not cause vestibular dysfunction, but is characterized by progressive hearing loss primarily affecting high frequencies.
- - The results establish PTPRQ's role in both forms of hearing loss, prompting its inclusion in genetic testing for ADNSHL, demonstrating
Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.
Graefes Arch Clin Exp Ophthalmol
November 2018
Purpose: Schnyder corneal dystrophy (SCD) is a rare inherited disease that leads to gradual vision loss by the deposition of lipids in the corneal stroma. The aim of this study is to report a novel pathogenic variant in the UBIAD1 gene and present clinical and molecular findings in Polish patients with SCD.
Methods: Individuals (n = 37) originating from four Polish SCD families were subjected for a complete ophthalmological check-up and genetic testing.