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Article

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay.

BMC medical genomics - 27 Sept 2024

Zhao Yixin, Long Yan, Shi Tao, Ma Xin, Lian Chengyu, Wang Hanjun, Xu Hongen, Yu Lisheng, Zhao Xiaotao

Abstract excerpt

BACKGROUND: The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA) and hearing loss (HL) in two patients. METHODS: The patients were subjected to multiplex PCR amplification and next-generation sequencing of common deafness...

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Identifiers

PMID: 39334476
DOI: 10.1186/s12920-024-02007-1
PMCID: PMC11430457

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