Objective: To explore the molecular basis for an individual with postnatal deafness and provide genetic counseling for her family.
Methods: Following extraction of genomic DNA from peripheral blood samples, 127 genes associated with deafness were subjected to targeted capturing and next generation sequencing. Suspected mutation was verified by Sanger sequencing.
Results: The proband was found to carry a homozygous c.1893C>A mutation in the TECTA gene, which is located in the tectorial membrane of inner ear and may cause premature termination of translation of TECTA protein. In addition, two heterozygous mutations, c.13010C>T and c.12790G>A, were found in the USH2A gene. Whilst the former is likely to be pathogenic, the latter has unknown clinical significance. Further analysis suggested that all three mutations have derived from the parents of the proband.
Conclusion: The homozygous c.1893C>A mutation of the TECTA gene probably underlies the proband's hearing loss which conformed to an autosomal recessive inheritance.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.02.013 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identifying DNA Variants in a Turkish Cohort with Inner Ear Anomalies.
Ear Nose Throat J
November 2024
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA.
To determine the genetic causes of sensorineural hearing loss (SNHL) associated with inner ear anomalies, 11 unrelated Turkish individuals diagnosed with SNHL and an inner ear anomaly using temporal bone computed tomography and inner ear magnetic resonance imaging underwent exome or whole genome sequencing to identify underlying genetic defects. None of the individuals was diagnosed with a recognized syndrome. Four of the 11 probands were homozygous for variants, , , , and .
View Article and Find Full Text PDFCritical role of hepsin/TMPRSS1 in hearing and tectorial membrane morphogenesis: Insights from transgenic mouse models.
Hear Res
November 2024
Department of Clinical Laboratory Sciences and Medical Biotechnology, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address:
Mutations in various type II transmembrane serine protease (TMPRSS) family members are associated with non-syndromic hearing loss, with some mechanisms still unclear. For instance, the mechanism underlying profound hearing loss and tectorial membrane (TM) malformations in hepsin/TMPRSS1 knockout (KO) mice remains elusive. In this study, we confirmed significantly elevated hearing thresholds and abnormal TM morphology in hepsin KO mice, characterized by enlarged TM with gaps and detachment from the spiral limbus.
View Article and Find Full Text PDFGenetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.
Clin Genet
December 2024
Faculty of Medicine, Department of Medical Genetics, Mashhad University of Medical Sciences, Mashhad, Iran.
Article Synopsis
- Hearing loss is a common genetic disorder, and this study focused on prelingual hearing loss patients in eastern Iran, highlighting challenges in genetic diagnosis due to locus and allelic heterogeneity.
- Researchers evaluated GJB2 gene variants in 745 patients using Sanger sequencing and conducted exome sequencing on an additional 280 patients with negative GJB2 results or syndromic hearing loss.
- The study found that exome sequencing identified the genetic causes for 70% of cases, with 10 specific genes linked to 66% of positive results, and revealed three common founder alleles in this population.
Spectrum of genetic variants in 306 patients with non-syndromic hearing loss from Croatia.
Croat Med J
June 2024
Ivona Sansović, Children's Hospital Zagreb, University of Zagreb, School of Medicine, Department of Medical and Laboratory Genetics, Endocrinology and Diabetology, Klaićeva 16, 10000 Zagreb, Croatia,
Aim: To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) and to investigate the diagnostic yield of the applied genetic methods.
Methods: The study enrolled 306 unrelated patients with childhood-onset, mild-to-profound NSHL referred to Children's Hospital Zagreb for genetic testing between March 2006 and October 2023. The GJB2 variants were analyzed with the multiplex ligation-dependent probe amplification method and Sanger sequencing of the coding region of the GJB2 gene.
MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population.
BMC Med Genomics
January 2024
College of Otolaryngology Head and Neck Surgery, National Clinical Research Center for Otolaryngologic Diseases, Sixth Medical Center of the PLA General Hospital, Chinese PLA Medical School, 6# Fucheng Road, Beijing, 100048, China.
Background: Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss.
Methods: In this study, we analyzed the phenotype and genotype of eight pedigrees consisting of 10 hearing loss patients with bi-allelic pathogenic or likely pathogenic variants in MPZL2. These patients were identified from a 3272 Chinese patient cohort who underwent genetic testing.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!