Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in CDH23, including one missense (c.8530C > A; p.Pro2844Thr) and one splice-site (c.5820 + 5G > A) mutation. This is the first report of sector RP associated with these types of mutations in CDH23.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3928/23258160-20160126-14 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identification of novel CDH23 heterozygous variants causing autosomal recessive nonsyndromic hearing loss.
Genes Genomics
January 2025
Medical Genetic Diagnosis and Therapy Center of Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Provincial Key Laboratory of Prenatal Diagnosis and Birth Defect, Fuzhou, Fujian, China.
Background: Hearing loss adversely impacts language development, acquisition, and the social and cognitive maturation of affected children. The hearing loss etiology mainly includes genetic factors and environmental factors, of which the former account for about 50-60%.
Objective: This study aimed to investigate the genetic basis of autosomal recessive non-syndromic hearing loss (NSHL) by identifying and characterizing novel variants in the CDH23 gene.
Whole exome-seq and RNA-seq data reveal unique neoantigen profiles in Kenyan breast cancer patients.
Front Oncol
December 2024
Directorate of Research and Innovation, Mount Kenya University, Thika, Kenya.
Background: The immune response against tumors relies on distinguishing between self and non-self, the basis of cancer immunotherapy. Neoantigens from somatic mutations are central to many immunotherapeutic strategies and understanding their landscape in breast cancer is crucial for targeted interventions. We aimed to profile neoantigens in Kenyan breast cancer patients using genomic DNA and total RNA from paired tumor and adjacent non-cancerous tissue samples of 23 patients.
View Article and Find Full Text PDFHeterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders.
Int J Mol Sci
November 2024
The Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, 117513 Moscow, Russia.
Auditory neuropathy spectrum disorder (ANSD) is often missed by standard hearing tests, accounting for up to 10% of hearing impairments (HI) and commonly linked to variants in 23 genes. We assessed 122 children with HI, including 102 with sensorineural hearing loss (SNHL) and 20 with ANSD. SNHL patients were genotyped for common variants using qPCR, while ANSD patients underwent whole exome sequencing, with variants analyzed across 249 genes.
View Article and Find Full Text PDFWhole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
HGG Adv
January 2025
Division of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa; McKusick-Nathans Institute, and Department of Genetic Medicine, Johns Hopkins University, School of Medicine, Baltimore, MD, USA. Electronic address:
Article Synopsis
- *This study focused on the genetic causes of HI in the Malian population through whole exome sequencing, uncovering variants in multiple known HI genes and identifying a novel candidate gene, UBFD1.
- *Results showed that 75% of the examined families had identifiable causes for HI, with many variants being newly identified and a case of digenic inheritance observed.
Segregation of Trans Mutations in the Gene in an Emirati Family with Sensorineural Hearing Loss.
Genes (Basel)
November 2024
Department of Applied Biology, College of Sciences, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.
Background/objectives: Hearing loss (HL) is a significant global health concern, affecting approximately 1 in every 1000 newborns, with over half of these cases attributed to genetic factors. This study focuses on identifying the genetic basis of autosomal recessive non-syndromic hearing loss (ARNSHL) in a consanguineous Emirati family.
Methods: Clinical exome sequencing (CES) was performed on affected members of the family, followed by Sanger sequencing to validate the findings.
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!