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EYA1-related disord...
EYA1-related disorders : two clinical cases and a literature review
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- Castiglione, Alessandro, 1976- (författare)
- Department of Neurosciences, Operative Unit of Otolaryngology and Otosurgery, University of Padua, Padua, Italy
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- Melchionda, Salvatore (författare)
- Unit of Medical Genetics, IRCCS, "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, Italy.
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- Carella, Massimo (författare)
- Unit of Medical Genetics, IRCCS, "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, Italy
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- Trevisi, Patrizia (författare)
- Department of Neurosciences, Operative Unit of Otolaryngology and Otosurgery, University of Padua, Padua, Italy
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- Bovo, Roberto (författare)
- Department of Neurosciences, Operative Unit of Otolaryngology and Otosurgery, University of Padua, Padua, Italy
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- Manara, Renzo (författare)
- Neuroradiologic Unit, University of Padua, Padua, Italy
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- Martini, Alessandro (författare)
- Department of Neurosciences, Operative Unit of Otolaryngology and Otosurgery, University of Padua, Padua, Italy
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Department of Neurosciences, Operative Unit of Otolaryngology and Otosurgery, University of Padua, Padua, Italy Unit of Medical Genetics, IRCCS, "Casa Sollievo della Sofferenza" Hospital, San Giovanni Rotondo, Italy (creator_code:org_t)
- Amsterdam : Elsevier, 2014
- 2014
- Engelska.
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Ingår i: International Journal of Pediatric Otorhinolaryngology. - Amsterdam : Elsevier. - 0165-5876 .- 1872-8464. ; 78:8, s. 1201-1210
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Oto-rhino-laryngologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Otorhinolaryngology (hsv//eng)
Nyckelord
- Branchio-otic
- Branchio-oto-renal
- Branchio-oto-ureteral
- EYA1 mutations
- Hearing loss
- Oto-Facio-Cervical
Publikations- och innehållstyp
- ref (ämneskategori)
- for (ämneskategori)
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