Clinical and cytogenomic findings in OAV spectrum

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dc.citation.issue3
dc.citation.volume176
dc.contributor.authorBragagnolo, Silvia [UNIFESP]
dc.contributor.authorColovati, Mileny E. S. [UNIFESP]
dc.contributor.authorSouza, Malu Z. [UNIFESP]
dc.contributor.authorDantas, Anelise G. [UNIFESP]
dc.contributor.authorde Soares, Maria F. F. [UNIFESP]
dc.contributor.authorMelaragno, Maria I. [UNIFESP]
dc.contributor.authorPerez, Ana B. [UNIFESP]
dc.coverageHoboken
dc.date.accessioned2020-07-08T13:09:35Z
dc.date.available2020-07-08T13:09:35Z
dc.date.issued2018
dc.description.abstractThe oculoauriculovertebral spectrum (OAVS) is characterized by anomalies involving the development of the first and second pharyngeal arches during the embryonic period. The phenotype is highly heterogeneous, involving ears, eyes, face, neck, and other systems and organs. There is no agreement in the literature for the minimum phenotypic inclusion criteria, but the primary phenotype involves hemifacial microsomia with facial asymmetry and microtia. Most cases are sporadic and the etiology of this syndrome is not well known. Environmental factors, family cases that demonstrate Mendelian inheritance, such as preauricular appendages, microtia, mandibular hypoplasia, and facial asymmetryen
dc.description.abstractchromosomal abnormalities and some candidate genes suggest a multifactorial inheritance model. We evaluated clinical, cytogenomic and molecularly 72 patients with OAVS, and compared our findings with patients from the literature. We found 15 CNVs (copy number variations) considered pathogenic or possibly pathogenic in 13 out of 72 patients. Our results did not indicated a single candidate genomic region, but recurrent chromosomal imbalances were observed in chromosome 4 and 22, in regions containing genes relevant to the OAVS phenotype or related to known OMIM diseases suggesting different pathogenic mechanisms involved in this genetically and phenotypic heterogeneous spectrum.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Radiol, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Radiol, Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFAPESP
dc.description.sponsorshipIDFAPESP: 2013/04623-2, 2013/19897-0
dc.format.extent638-648
dc.identifierhttp://dx.doi.org/10.1002/ajmg.a.38576
dc.identifier.citationAmerican Journal Of Medical Genetics Part A. Hoboken, v. 176, n. 3, p. 638-648, 2018.
dc.identifier.doi10.1002/ajmg.a.38576
dc.identifier.issn1552-4825
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/54084
dc.identifier.wosWOS:000425118400011
dc.language.isoeng
dc.publisherWiley
dc.relation.ispartofAmerican Journal Of Medical Genetics Part A
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectcraniofacial microsomiaen
dc.subjectGoldenhar Syndromeen
dc.subjecthemifacial microsomiaen
dc.subjectoculoauriculovertebral syndromeen
dc.titleClinical and cytogenomic findings in OAV spectrumen
dc.typeinfo:eu-repo/semantics/article
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