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Feingold syndrome with GJB2 variants
Yoshihiro Nitta1, Hajime Sano2, Yoshihiro Yoshimura3
1Department of Otorhinolaryngology and Head and Neck Surgery, Kitasato University School of Medicine, Kanagawa, Japan.
Genetic factors cause congenital hearing loss. This rare case highlights Feingold syndrome type 1 (FS1) combined with GJB2 variant-related hearing loss, emphasizing early malformation screening for accurate diagnosis.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Congenital hearing loss is a common birth defect, with genetics playing a role in 50% of prelingual cases.
- GJB2 variants are a frequent cause of autosomal recessive non-syndromic hearing loss, usually with stable hearing and good cochlear implant outcomes.
Observation:
- A 3-year-6-month-old girl presented with profound bilateral hearing loss, microcephaly, short stature, and digital anomalies.
- CT scans revealed inner ear malformations, including vestibular enlargement and cochlear nerve canal stenosis.
- Genetic testing identified a homozygous GJB2 c.235delC variant.
Findings:
- Despite hearing aids and cochlear implantation, the patient experienced persistent language and social delays.
- Further genetic analysis revealed a heterozygous MYCN variant, confirming Feingold syndrome type 1 (FS1).
- This case represents a rare co-occurrence of FS1 and GJB2-related hearing loss.
Implications:
- Early screening for malformations beyond GJB2 variants is crucial for diagnosing complex genetic syndromes.
- Accurate diagnosis of Feingold syndrome type 1 allows for tailored family counseling and management.
- This case underscores the importance of comprehensive genetic evaluation in atypical presentations of congenital hearing loss.
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