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Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss
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Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss
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Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss
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Journal Article
Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss
2025
Overview
Autosomal dominant non-syndromic hearing loss (ADNSHL) is a genetically heterogenic condition. The transformation/transcription domain associated protein (TRRAP) gene has been recently associated with ADNSHL, and only four variants of the gene have so far been reported in this disease. Here, we report on a Hungarian ADNSHL family in which the affected individuals exhibited sensorineural hearing loss with similar clinical symptoms, including initial impaired high frequencies that subsequently affected speech and lower frequencies. Whole exome sequencing and screening of the shared genetic variants of the affected individuals was performed. Our results revealed a novel heterozygous missense variant (NM_001244580.2, c.5360A>G, p.Lys1787Arg) in the TRRAP gene. This variant is completely co-segregated with hearing impairment. It is present in a heterozygous form in the affected mother and daughter but not carried by any unaffected family members. This study highlights the importance of elucidating the germline genetic background of ADNSHL, which may help to predict individual risk and the risk of family members. This will improve prevention, screening, and therapeutic measures for each patient and hearing loss-prone families.
Publisher
MDPI AG,MDPI
Subject
