Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of <i>WFS1</i>.

Jung, Joonho; Jang, Seung Hyun; Won, Dongju; Gee, Heon Yung; Choi, Jae Young; Jung, Jinsei

Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants of WFS1.

Jung, Joonho; Jang, Seung Hyun; Won, Dongju; Gee, Heon Yung; Choi, Jae Young; Jung, Jinsei.

Afiliación

Jung J; Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Jang SH; Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Won D; Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Gee HY; Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Choi JY; Department of Pharmacology, Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
Jung J; Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.

J Clin Med ; 13(16)2024 Aug 16.

Article en En | MEDLINE | ID: mdl-39200993

ABSTRACT

ABSTRACT

Background:

Mutations in Wolfram syndrome 1 (WFS1) cause Wolfram syndrome and autosomal dominant non-syndromic hearing loss DFNA6/14/38. To date, more than 300 pathogenic variants of WFS1 have been identified. Generally, the audiological phenotype of Wolfram syndrome or DFNA6/14/38 is characterized by low-frequency hearing loss; however, this phenotype is largely variable. Hence, there is a need to better understand the diversity in audiological and vestibular profiles associated with WFS1 variants, as this can have significant implications for diagnosis and management. This study aims to investigate the clinical characteristics, audiological phenotypes, and vestibular function in patients with DFNA6/14/38.

Methods:

Whole-exome or targeted deafness gene panel sequencing was performed to confirm the pathogenic variants in patients with genetic hearing loss.

Results:

We identified nine independent families with affected individuals who carried a heterozygous pathogenic variant of WFS1. The onset of hearing loss varied from the first to the fifth decade. On a pure-tone audiogram, hearing loss was symmetrical, and the severity ranged from mild to severe. Notably, either both low-frequency and high-frequency or all-frequency-specific hearing loss was observed. However, hearing loss was non-progressive in all types. In addition, vestibular impairment was identified in patients with DFNA6/14/38, indicating that impaired WFS1 may also affect the vestibular organs.

Conclusions:

Diverse audiological and vestibular profiles were observed in patients with pathogenic variants of WFS1. These findings highlight the importance of comprehensive audiological and vestibular assessments in patients with WFS1 mutations for accurate diagnosis and management.

Palabras clave

Wolfram syndrome 1; audiologic profile; genetic hearing loss; low-frequency hearing loss; vestibular profile

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Clin Med Año: 2024 Tipo del documento: Article Pais de publicación: Suiza