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

Gana, Simone and Valetto, Angelo and Toschi, Benedetta and Sardelli, Irene and Cappelli, Susanna and Peroni, Diego and Bertini, Veronica (2019) Familial Interstitial 6q23.2 Deletion Including Eya4 Associated With Otofaciocervical Syndrome. Frontiers in Genetics, 10. ISSN 1664-8021

[thumbnail of pubmed-zip/versions/1/package-entries/fgene-10-00650.pdf] Text
pubmed-zip/versions/1/package-entries/fgene-10-00650.pdf - Published Version

Download (1MB)

Abstract

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.

Item Type: Article
Subjects: Asian STM > Medical Science
Depositing User: Managing Editor
Date Deposited: 04 Feb 2023 05:49
Last Modified: 04 Jun 2024 10:52
URI: http://journal.send2sub.com/id/eprint/587

Actions (login required)

View Item
View Item