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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Whole-exome analyses of non-syndromic hearing loss ...
Whole-exome analyses of non-syndromic hearing loss patients from India reveal a wide spectrum of known and novel mutations
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Pdf Summary
Non-syndromic hearing loss (NSHL) is a congenital non-progressive hearing impairment that affects approximately 1 in 1000 newborns worldwide. Over half of these cases are due to genetic reasons. In India, where there is a large population of genetically deaf individuals, the specific causes of the disorder are not well understood. In a recent study, researchers conducted clinical and audiological characterization of NSHL probands in India to analyze known deafness-causing genes and identify pathogenic mutations. They performed whole-exome sequencing (WES) analysis on 43 patients and identified a wide spectrum of known and novel mutations in genes related to congenital nonsyndromic hearing loss. The study also found phenotypic overlap with other syndromes, such as Usher syndrome, Pendred syndrome, Wolfram syndrome, Chudley-Mccullough Syndrome, and Alport Syndrome. The researchers concluded that WES, along with accurate audiometric diagnosis, could help identify genes contributing to nonsyndromic hearing loss. They also highlighted the importance of understanding the genetic origins of rare diseases, as they affect a significant number of patients and often take a long time to diagnose. The study's findings have been uploaded to the European Nucleotide Archive for further investigation. For more information, contact sc5@nibmg.ac.in.
Asset Subtitle
Presenting Author - Sudipta Chakraborty, MSC; Co-Author - Sukanya Mitra, MSc; Co-Author - Shamita Sanga, MTech; Co-Author - Arnab Ghosh, MSc; Co-Author - Suchandra Mukherjee, MD; Co-Author - Nidhan Biswas, PhD; Co-Author - Moulinath Acharya, PhD;
Meta Tag
Auditory System
Bioinformatics
Counseling
Exome sequencing
Genetic Testing
Genome sequencing
Genomic Structure
Genotype-Phenotype Correlations
Inheritance Patterns
NextGen Sequencing
Phenotype
Sequencing
Co-Author
Sukanya Mitra, MSc
Co-Author
Shamita Sanga, MTech
Co-Author
Arnab Ghosh, MSc
Co-Author
Suchandra Mukherjee, MD
Co-Author
Nidhan Biswas, PhD
Co-Author
Moulinath Acharya, PhD
Presenting Author
Sudipta Chakraborty, MSC
Keywords
Non-syndromic hearing loss
NSHL
congenital hearing impairment
genetic causes
India
deafness-causing genes
pathogenic mutations
whole-exome sequencing
phenotypic overlap
rare diseases
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