Molecular Genetic Etiology and Revisiting the Middle Ear Surgery Outcomes of Branchio-Oto-Renal Syndrome: Experience in a Tertiary Referral Center.
Otol Neurotol
; 44(5): e319-e327, 2023 06 01.
Article
en En
| MEDLINE
| ID: mdl-37167448
ABSTRACT
OBJECTIVES:
To explore the phenotypes and genotypes of patients with branchio-oto-renal (BOR) and branchio-otic (BO) syndrome, and to analyze the middle ear surgery outcomes qualitatively and quantitatively, proposing a factor usefully prognostic of surgical outcomes. STUDYDESIGN:
Retrospective cohort study.SETTING:
Tertiary referral center. PATIENTS Eighteen patients with BOR/BO syndrome in 12 unrelated Korean families. INTERVENTION Middle ear surgery, including either stapes surgery or ossicular reconstruction. MAIN OUTCOMEMEASURE:
Clinical phenotypes, genotypes, and middle ear surgery outcomes.RESULTS:
Eight probands (66.7%) were confirmed genetically; the condition segregated as a dominant or de novo trait. Six EYA1 heterozygous variants were identified by exome sequencing and multiplex ligation-dependent probe amplification. All variants were pathogenic or likely pathogenic based on the ACMG/AMP guidelines. Two novel EYA1 frameshift variants (p.His373Phefs*4 and p.Gln543Asnfs*90) truncating a highly conserved C-terminal Eya domain were identified, expanding the genotypic spectrum of EYA1 in BOR/BO syndrome. Remarkably, middle ear surgery was individualized to ensure optimal audiological outcomes and afforded significant audiological improvements, especially in BOR/BO patients without enlarged vestibular aqueducts (EVAs). A significant difference in air-bone gap closure after middle ear surgery was noted between the two groups even after adjusting for confounders -20.5 dB in ears without EVAs (improvement) but 0.8 dB in ears with EVAs (no change or deterioration). Furthermore, the success rate was significantly associated with the absence of EVA.CONCLUSIONS:
The results of this study were against the notion that middle ear surgery is always contraindicated in patients with BOR/BO syndrome, and an EVA could be a negative prognostic indicator of middle ear surgery in BOR/BO patients. This may aid to determine the strategy of audiological rehabilitation in patients with BOR/BO syndrome.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Síndrome Branquio Oto Renal
Tipo de estudio:
Etiology_studies
/
Guideline
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Idioma:
En
Revista:
Otol Neurotol
Asunto de la revista:
NEUROLOGIA
/
OTORRINOLARINGOLOGIA
Año:
2023
Tipo del documento:
Article