1. Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.
- Author
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Chen, Yung-Hsuan, Lin, Wei-Che, Hwang, Chung-Feng, Tsai, Meng-Han, and Yang, Chao-Hui
- Subjects
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HEARING disorder diagnosis , *COCHLEA physiology , *VESTIBULAR apparatus physiology , *VERTIGO , *VESTIBULAR aqueduct , *DIFFERENTIAL diagnosis , *THYROID gland function tests , *SENSORINEURAL hearing loss , *COMPUTED tomography , *EAR diseases , *HEARING aids , *FAMILIES , *GENETIC counseling , *AUDIOMETRY , *CYSTS (Pathology) , *TINNITUS , *THYROID gland , *INNER ear , *PENDRED syndrome , *GENETIC mutation , *VOMITING , *GENETIC testing , *SEQUENCE analysis ,ACOUSTIC nerve diseases - Abstract
Objectives: Pendred syndrome, an autosomal recessive disorder, is often associated with pathogenic variants of the SLC26A4 gene that encodes the pendrin protein. Given its autosomal recessive inheritance, tracing the family history and screening siblings become crucial once a diagnosis of Pendred syndrome is confirmed. This case report aims to underscore the variability in inner ear morphology within a family diagnosed with Pendred syndrome, all carrying the same SLC26A4 gene mutation. Methods: A chart review and a review of the literature. Results: We present a family of 4, all of whom possess sensorineural hearing loss due to the same homozygous SLC26A4 variant c.919-2A>G. Intriguingly, clinical manifestations, especially inner ear deformities, displayed variability among family members. Notably, 1 family member exhibited a normal cochleovestibular structure morphology, which was rarely reported in the literature. Conclusions: This report highlights the significance of genetic testing and familial consultation when a proband exhibits typical Pendred syndrome symptoms. It also underscores that the inner ear morphology can exhibit variability among family members, even with the same homozygous SLC26A4 variant. [ABSTRACT FROM AUTHOR] more...
- Published
- 2024
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