EYA1-related disorders: two clinical cases and a literature reviewShow others and affiliations
2014 (English)In: International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, E-ISSN 1872-8464, Vol. 78, no 8, p. 1201-1210Article, review/survey (Refereed) Published
Abstract [en]
Objectives: To delineate the diagnostic and rehabilitative aspects of syndromes that have overlapping features, we present the cases of two unrelated Caucasian males affected by hearing impairment, preauricular pits and cervical fistulae. Specific findings that are helpful in the diagnosis and management of EYA1-related disorders are highlighted.
Methods: Genetic, otologic, imaging, eye and renal evaluations were conducted to achieve a detailed and comprehensive assessment, leading to the most accurate diagnosis and appropriate treatment. A literature review was also carried out.
Results: Diagnostic criteria indicated that the two patients were affected by BOS1 (Branchio-Otic Syndrome 1). We also identified a novel sporadic missense mutation in the EYA1 gene: p.G533R (c.1597G>A, NM_000503.4), a highly conserved, heterozygotic amino acid substitution. In the other case, we identified the p.X593QextX6 (c.1777T>A, NM_000503.4) substitution. Both variants lead to isoform 1 (EYA1B and EYA1C) which is composed of 592 amino acids. Clinical and in silico evidence suggests a pathogenic role for the new mutations. Imaging evaluation revealed a complex pathology, characterized by external, inner and middle ear malformations, without renal anomalies.
Conclusions: Our results demonstrate the importance of considering the imaging evaluation and the complete DNA sequencing of the EYA1 gene for the differential diagnosis of deafness and related branchio-oto-renal disorders.
Place, publisher, year, edition, pages
Amsterdam: Elsevier, 2014. Vol. 78, no 8, p. 1201-1210
Keywords [en]
Branchio-otic, Branchio-oto-renal, Branchio-oto-ureteral, EYA1 mutations, Hearing loss, Oto-Facio-Cervical
National Category
Medical Genetics and Genomics Otorhinolaryngology
Identifiers
URN: urn:nbn:se:oru:diva-97578DOI: 10.1016/j.ijporl.2014.03.032ISI: 000340304800001PubMedID: 24803398Scopus ID: 2-s2.0-84904058127OAI: oai:DiVA.org:oru-97578DiVA, id: diva2:1638685
2022-02-172022-02-172025-02-10Bibliographically approved