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Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.

Genes - 24 Sept 2020

Tona Risa, Lopez Ivan A, Fenollar-Ferrer Cristina, Faridi Rabia, Anselmi Claudio, Khan Asma A, Shahzad Mohsin, Morell Robert J, Gu Shoujun, Hoa Michael, Dong Lijin, Ishiyama Akira, Belyantseva Inna A, Riazuddin Sheikh, Friedman Thomas B

Abstract excerpt

Human pathogenic variants of TBC1D24 are associated with clinically heterogeneous phenotypes, including recessive nonsyndromic deafness DFNB86, dominant nonsyndromic deafness DFNA65, seizure accompanied by deafness, a variety of isolated seizure phenotypes and DOORS syndrome, characterized by deafness, onychodystrophy, osteodystrophy, intellectual disability and seizures. Thirty-five pathogenic variants of human...

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Identifiers

PMID: 32987832
DOI: 10.3390/genes11101122
PMCID: PMC7598720

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Source receipt: pubmed, retrieved 7 Sept 2026.

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