Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome

Simone Gana, Angelo Valetto, Benedetta Toschi, Irene Sardelli, Susanna Cappelli, Diego Peroni, Veronica Bertini

Research output: Contribution to journalArticlepeer-review


We report on a 34-year-old woman and her mother who both have clinical features suggestive for otofaciocervical syndrome (OTFCS), a disorder characterized by a combination of facial dysmorphisms, ear abnormalities with hearing loss, and shoulder girdle anomalies. OTFCS presents overlapping features with branchiootorenal spectrum disorders, including branchiootorenal syndrome and branchiootic syndrome. These disorders have been described as clinically distinct entities, but molecular studies have shown that all the causative genes belong to the Pax-Six-Eya-Dach network (PSEDN). So far, the genetic diagnosis of OTFCS has been performed only in very few cases and involves two genes, EYA1 and PAX1; thus, it is likely that other genes have still to be identified. In the present patient, array CGH analysis showed a 3.7-Mb deletion in 6q23; a smaller 1.9-Mb deletion in the same region was detected in her mother. The minimal overlapping region harbors the EYA4 gene. The cases here described are interesting, since they all showed the typical clinical features of OTFCS, associated with a deletion in 6q23.2. Even if we cannot exclude the contribution of other genes to the phenotype, EYA4 is a good candidate for OTFCS according to its pattern of expression, its sequence similarity to EYA1, and its involvement in PSEDN.

Original languageEnglish
Pages (from-to)650
JournalFrontiers in Genetics
Publication statusPublished - 2019


Dive into the research topics of 'Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome'. Together they form a unique fingerprint.

Cite this