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Syndromic hearing loss molecular diagnosis: Application of massive parallel sequencing
Yasmin Soares de Lima1, Marcela Chiabai2, Jun Shen3
1Departamento de Genética e Morfologia, Universidade de Brasília, Brasília, Brazil; Programa de Pós-graduação em Biologia Animal, Universidade de Brasília, Brasília, Brazil.
Hearing Research
|November 4, 2018
Summary
Genetic testing for syndromic hearing loss is crucial. A custom gene panel identified causative mutations in 25% of patients, particularly those with a suspected clinical diagnosis, aiding genetic counseling.
Area of Science:
- Genetics
- Otolaryngology
- Molecular Biology
Background:
- Syndromic hearing loss constitutes a significant portion of genetically caused hearing impairments.
- Genetic mutation screening is vital for understanding the etiology of hearing loss and for family genetic counseling.
Purpose of the Study:
- To develop and evaluate a customized Ion AmpliSeq Panel for investigating syndromic hearing loss.
- To identify causative mutations in patients with syndromic hearing loss.
Main Methods:
- A custom Ion AmpliSeq Panel was designed to cover coding sequences of 52 genes associated with syndromic hearing loss.
- Twenty-four patients (17 with known syndromes, 7 without) were sequenced using the panel.
Main Results:
- Potentially causative mutations were identified in nine patients (37.5%), all from the clinically diagnosed group.
- A conclusive molecular diagnosis was achieved for six patients (25% overall diagnostic rate).
- The diagnostic rate was higher (35%) in patients with a suspected clinical diagnosis, with three novel mutations found in Waardenburg, Treacher Collins, and CHARGE syndromes.
Conclusions:
- The customized gene panel is effective for molecular diagnosis of syndromic hearing loss, especially in patients with a defined clinical diagnosis.
- The panel aids in identifying novel mutations and provides valuable information for genetic counseling.
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