Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.

doi:10.1186/s10020-025-01225-2

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Article

Unraveling the complex genetic landscape of OTOF-related hearing loss: a deep dive into cryptic variants and haplotype phasing.

Molecular medicine (Cambridge, Mass.) - 9 May 2025

Lin Pei-Hsuan, Tsai Cheng-Yu, Chiang Yu-Ting, Ho Chang-Han, Lu Yue-Sheng, Hsu Jacob Shu-Jui, Cheng Yen-Fu, Tsai Shih-Feng, Hsu Chuan-Jen, Chen Pei-Lung, Wu Chen-Chi

Abstract excerpt

BACKGROUND: Pathogenic variants in OTOF are a major cause of auditory synaptopathy. However, challenges remain in interpreting OTOF variants, including difficulties in confirming haplotype phasing using traditional short-read sequencing (SRS) due to the large gene size, the potential incomplete penetrance of certain variants, and difficulties in assessing variants at non-canonical splice sites. This study aims to...

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Topics

Humans
Haplotypes
Female
Male
Membrane Proteins
Adult

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

Hearing Loss

Mutation

Taiwan

Adolescent

Genetic Variation

Genetic Predisposition to Disease

Child, Preschool

Middle Aged

Young Adult

High-Throughput Nucleotide Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 40346465
DOI: 10.1186/s10020-025-01225-2
PMCID: PMC12063237

Genes

OTOF

Variants

Provenance

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