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J Audiol Otol > Volume 29(1); 2025 > Article |
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Author Contributions
Conceptualization: Jayakumar Swetha, Sambandam Ravikumar. Data curation: Arulmozhi Sakthignanavel, Aarthi Manoharan, Priyadharshini Arunagiri. Formal analysis: Jayakumar Swetha, Priyadharshini Arunagiri. Funding acquisition: Arulmozhi Sakthignanavel, Sambandam Ravikumar. Investigation: Arulmozhi Sakthignanavel, Aarthi Manoharan, Priyadharshini Arunagiri. Methodology: Arulmozhi Sakthignanavel, Chandramohan Govindasamy. Project administration: Jayakumar Swetha, Priyadharshini Arunagiri. Software: Chandramohan Govindasamy, Jayakumar Rangarajalu. Supervision: Sambandam Ravikumar, Chandramohan Govindasamy. Visualization: Jayakumar Swetha, Jayakumar Rangarajalu. Writing—original draft: Jayakumar Swetha, Aarthi Manoharan. Writing—review & editing: Aarthi Manoharan, Jayakumar Rangarajalu, Sambandam Ravikumar. Approval of final manuscript: all authors.
Funding Statement
The research leading to these results received funding from Indian Council of Medical Research under Adhoc Research Project No.5/4-5/06/ENT/2020-NCD-I entitled “Genetic Screening to identify the association between consanguineous marriage with deafness in Puducherry and Tamil Nadu.”
Study | Ethnicity (n*) | HL Phenotype |
OTOA variants |
|
---|---|---|---|---|
CNV | SNV | |||
Sugiyama, et al. [12] | Japanese (7/2,262) | Mild to moderate HL | Homozygous OTOA deletion | c.235C>T |
Heterozygous OTOA deletion† | c.442C>T | |||
c.469C>T | ||||
c.1705A>G | ||||
c.647T>C | ||||
Bademci, et al. [13] | Turkish (3/103) | Mild to moderate HL | Homozygous OTOA deletion | - |
Shahin, et al. [17] | Palestinian population (4/238) | Prelingual NSHL | Homozygous OTOA deletion | - |
Fontana, et al. [18] | Italian family (3/6) | Prelingual severe NSHL | Heterozygous OTOA deletion† | c.1865T>A |
He, et al. [19] | Chinese (1/44) | Moderate to profound HL | Heterozygous OTOA deletion† | c.878A>G |
Sloan-Heggen, et al. [29] | Iran (3/302) | Mild to moderate HL | Homozygous OTOA deletion | - |
Alkowari, et al. [30] | Qatar (3/80) | Moderate HL | Homozygous OTOA deletion | - |
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