A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family.
PMID 39916398 | PMCID PMC11824526 | DOI 10.7874/jao.2024.00038 · Journal of audiology & otology · 2025
BACKGROUND AND OBJECTIVES: Hereditary hearing loss is the most common genetic disorder in children. Nearly 120 genes associated with auditory impairment have been identified. Although the disease is clinically and genetically complex, the chances of identifying deafness-causing loci increase when studying consanguineous families. Materials and. METHODS: Whole-exome sequencing was performed to identify genetic variants underlying sensorineural hearing loss in affected individuals from a family with third-degree consanguineous practices. RESULTS: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, METTL9, IGSF6, and OTOA, and a partial deletion of the NPIPB4 gene co-segregated within the family. CONCLUSIONS: This study highlighted the genetic heterogeneity of hearing loss in consanguineous families. Future research should focus on the OTOA mutational spectrum in South Indian populations with hearing loss.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | METTL9 | “RESULTS: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, METTL9, IGSF6, and OTOA, and a partial deletion of the NPIPB4 gene co-segregated within the family.” | 0.98 | hgnc_dict_v1 |
| gene | IGSF6 | “RESULTS: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, METTL9, IGSF6, and OTOA, and a partial deletion of the NPIPB4 gene co-segregated within the family.” | 0.98 | hgnc_dict_v1 |
| gene | OTOA | “RESULTS: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, METTL9, IGSF6, and OTOA, and a partial deletion of the NPIPB4 gene co-segregated within the family.” | 0.98 | hgnc_dict_v1 |
| gene | NPIPB4 | “RESULTS: A homozygous deletion of 250.285 kb was identified in the 16p12.2 region encompassing three genes, METTL9, IGSF6, and OTOA, and a partial deletion of the NPIPB4 gene co-segregated within the family.” | 0.98 | hgnc_dict_v1 |
| phenotype | hearing loss | “A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “A 250-kb Microdeletion Identified in Chromosome 16 Is Associated With Non-Syndromic Sensorineural Hearing Loss in a South Indian Consanguineous Family. Although the disease is clinically and genetically complex, the chances of identifying deafness-causing loci increase when studying consanguineous families. METHODS: Whole-exome sequencing was performed to identify genetic variants underlying sensorineural hearing loss in affected individuals from a family with third-degree consanguineous practices. CONCLUSIONS: This study highlighted the genetic heterogeneity of hearing loss in consanguineous families.” | 0.80 | saudi_context_rules_v1 |