A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family

Dimensions

Swetha, Jayakumar and Sakthignanavel, Arulmozhi and Manoharan, Aarthi and Rangarajalu, Jayakumar and Arunagiri, Priyadharshini and Govindasamy, Chandramohan and Ravikumar, Sambandam (2025) A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family. Journal of Audiology and Otology, 29 (1). 31 - 37. ISSN 23841621; 23841710

Full text not available from this repository.

Abstract

This study investigated hereditary hearing loss in a consanguineous family using whole-exome sequencing. A homozygous 250.285 kb deletion at 16p12.2 affecting METTL9, IGSF6, and OTOA genes, along with partial NPIPB4 deletion, was identified. The findings highlight the genetic heterogeneity of hearing loss and emphasize the importance of studying consanguineous families. Future research should focus on the OTOA gene spectrum in South Indian populations to improve understanding of genetic deafness.

Item Type: Article
Additional Information: Cited by: 0; All Open Access; Gold Open Access; Green Accepted Open Access; Green Open Access
Subjects: Biochemistry, Genetics and Molecular Biology > Genetics
Divisions: Arts and Science > Vinayaka Mission's Kirupananda Variyar Arts & Science College, Salem > Computer Science
Depositing User: Unnamed user with email techsupport@mosys.org
Date Deposited: 26 Nov 2025 09:09
Last Modified: 26 Nov 2025 09:09
URI: https://vmuir.mosys.org/id/eprint/330

Actions (login required)

View Item
View Item