Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of <i>EYA1</i>-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

ABSTRACT: Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial, auditory, and shoulder girdle anomalies. Its significant phenotypic overlap with branchiootorenal spectrum disorders (BORSD)-both linked to EYA1 (EYA transcriptional coactivator and phosphatase 1) gene defects-has raised questions about whether they are distinct entities or part of a single clinical spectrum. We report a novel OTFCS patient with a de novo microdeletion spanning EYA1 and review all published cases of EYA1-related disorders. Our analysis reveals that all EYA1 variant types (truncating, missense, CNV, etc.) can cause BORSD, OTFCS, or hybrid phenotypes, firmly supporting their status as allelic disorders. Crucially, all reported OTFCS patients with EYA1 variants had

SUBMITTER: Graziani L 

PROVIDER: S-EPMC12652286 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature