Clinical and cytogenomic findings in OAV spectrum

Autor(es)

Bragagnolo, Silvia ^[1] ; Colovati, Mileny E. S. ^[1] ; Souza, Malu Z. ^[1] ; Dantas, Anelise G. ^[1] ; de Soares, Maria F. F. ^[2] ; Melaragno, Maria I. ^[1] ; Perez, Ana B. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Morphol & Genet, Rua Botucatu 740, BR-04023900 Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, Dept Radiol, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: AMERICAN JOURNAL OF MEDICAL GENETICS PART A; v. 176, n. 3, p. 638-648, MAR 2018.
• Citações Web of Science: 4

Resumo

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. (AU)

• Processo FAPESP: 13/19897-0 - Síndrome de Goldenhar e Espectro Óculo-Aurículo-Vertebral (GS/OAVS): Estudo clínico, citogenômico e molecular
• Beneficiário: MILENY ESBRAVATTI STEPHANO COLOVATI
• Modalidade de apoio: Bolsas no Brasil - Doutorado
• Processo FAPESP: 13/04623-2 - Síndrome de Goldenhar e espectro óculo-aurículo-vertebral (GS/OAVS): estudo clínico, citogenômico e molecular
• Beneficiário: Ana Beatriz Alvarez Perez
• Modalidade de apoio: Auxílio à Pesquisa - Regular