Variability in Inner Ear Morphology Among a Family With Pendred Syndrome Due to a SLC26A4 Gene Variant.
Ann Otol Rhinol Laryngol
; 133(9): 828-833, 2024 Sep.
Article
in En
| MEDLINE
| ID: mdl-38877731
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pedigree
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Sulfate Transporters
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Goiter, Nodular
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Hearing Loss, Sensorineural
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Ear, Inner
Limits:
Adult
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Child
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Female
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Humans
/
Male
Language:
En
Journal:
Ann Otol Rhinol Laryngol
Year:
2024
Document type:
Article
Affiliation country:
Country of publication: