Clinical and cytogenomic findings in OAV spectrum

Clinical and cytogenomic findings in OAV spectrum

Author Bragagnolo, Silvia Autor UNIFESP Google Scholar
Colovati, Mileny E. S. Autor UNIFESP Google Scholar
Souza, Malu Z. Autor UNIFESP Google Scholar
Dantas, Anelise G. Autor UNIFESP Google Scholar
de Soares, Maria F. F. Autor UNIFESP Google Scholar
Melaragno, Maria I. Autor UNIFESP Google Scholar
Perez, Ana B. Autor UNIFESP Google Scholar
Abstract The 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 asymmetry

chromosomal 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.
Keywords craniofacial microsomia
Goldenhar Syndrome
hemifacial microsomia
oculoauriculovertebral syndrome
xmlui.dri2xhtml.METS-1.0.item-coverage Hoboken
Language English
Sponsor FAPESP
Grant number FAPESP: 2013/04623-2, 2013/19897-0
Date 2018
Published in American Journal Of Medical Genetics Part A. Hoboken, v. 176, n. 3, p. 638-648, 2018.
ISSN 1552-4825 (Sherpa/Romeo, impact factor)
Publisher Wiley
Extent 638-648
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000425118400011

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