Publications by authors named "C Schoefer"
Purpose: Hearing loss (HL) is often monogenic. The clinical importance of genetic testing in HL may further increase when gene therapy products become available. Diagnoses are, however, complicated by a high genetic and allelic heterogeneity, particularly of autosomal dominant (AD) HL.
View Article and Find Full Text PDFLoss-of-function variants in AP3D1 have been linked to Hermansky-Pudlak syndrome (HPS) 10, a severe multisystem disorder characterized by oculocutaneous albinism, immunodeficiency, neurodevelopmental delay, hearing loss (HL), and neurological abnormalities, fatal in early childhood. Here, we report a consanguineous family who presented with presumably isolated autosomal recessive (AR) HL. Whole-exome sequencing was performed on all core family members, and selected patients were screened using array-based copy-number analysis and karyotyping.
View Article and Find Full Text PDFCell fate transitions depend on balanced rewiring of transcription and translation programs to mediate ordered developmental progression. Components of the nonsense-mediated mRNA decay (NMD) pathway have been implicated in regulating embryonic stem cell (ESC) differentiation, but the exact mechanism is unclear. Here we show that NMD controls expression levels of the translation initiation factor and its premature termination codon-encoding isoform ( ).
View Article and Find Full Text PDFArticle Synopsis
- The study aims to identify genetic variations in tumor suppressor genes related to familial paraganglioma (PGL) to develop personalized treatments.
- A novel genetic mutation (c.298delA) in the SDH subunit D was found in a family with a history of early-onset head and neck PGL, suggesting a paternal inheritance pattern.
- The findings emphasize the need for genetic screening in PGL cases, particularly those with uncertain inheritance, and highlight that mutation carriers should be monitored throughout their lives.
Article Synopsis
- More than half of autosomal recessive genetic hearing loss cases in Austria are linked to mutations in a single gene, while no specific gene has been identified for autosomal dominant cases.
- Diagnostic testing on families with autosomal dominant hearing loss revealed candidate variants in the MYO6 gene, including three novel mutations.
- The findings indicate a high prevalence of MYO6 variants in Austrian patients, stressing the importance of multiple genetic factors for accurate genetic counseling and personalized treatment approaches.