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J Pediatr Genet 2020; 09(03): 149-157
DOI: 10.1055/s-0040-1712118
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Microarray-Based Comparative Genomic Hybridization, Multiplex Ligation-Dependent Probe Amplification, and High-Resolution Karyotype for Differential Diagnosis Oculoauriculovertebral Spectrum: A Systematic Review

Andressa Barreto Glaeser
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Bruna Lixinski Diniz
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Desirée Deconte
1   Graduate Program in Pathology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Andressa Schneiders Santos
2   Undergraduate Program in Biomedicine, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Rafael Fabiano Machado Rosa
3   Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
,
Paulo Ricardo Gazzola Zen 
3   Department of Internal Medicine, Clinical Genetics, Irmandade Santa Casa de Misericórdia de Porto Alegre, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil
› Author Affiliations Funding Sources This study was supported by the Fundação de Amparo à Pesquisa do Estado do Rio Grande do Sul (FAPERGS, 17/2551-0001063-9), Programa de Extensão Universitária do Ministério da Educação e Cultura (PROEXT), and Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)/Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq) (301834/2016-4).
Further Information

Publication History

13 January 2020

16 April 2020

Publication Date:
27 May 2020 (online)

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Abstract

Oculoauriculovertebral spectrum (OAVS) is a rare class of heterogenous congenital craniofacial malformation conditions of unknown etiology. Although classic OAVS has been described as hemifacial microsomia with facial asymmetry and microtia, there is no consensus regarding clinical criteria for diagnosis or genetic cause. This systematic review aims to assess the applicability of high-resolution (HR) karyotype, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA), and microarray-based comparative genomic hybridization (array-CGH) for differential diagnosis of OAVS. A search was performed in PubMed and Web of Science using all entry terms to the following descriptors: Goldenhar's syndrome, cytogenetic analysis, hybridization in situ, fluorescent, comparative genomic hybridization, multiplex polymerase chain reaction, whole genome sequencing, and karyotype analysis methods. After screening, 25 articles met eligibility. Of the included studies, 59 individuals had a genetic alteration identified. Array-CGH, MLPA, and HR karyotype appear to be viable approaches for molecular diagnosis in OAVS. Heterogeneity is a hallmark of OAVS. Establishing an enhanced framework for diagnosis would inform clinical decision making, and better resource utilization could improve health care facility efficiency and economy.

Keywords

Goldenhar's syndrome - OAVS - comparative genomic hybridization

Authors' Contribution

A.G., B.D., D.D., and A.S. made substantial contributions to the conception or design of the study: the acquisition, analysis, and interpretation of data for the study; drafting the article; and revising it critically for important intellectual content. R.R. and P.Z. revised the article critically for important intellectual content, and all authors (A.G., B.D., D.D., A.S., R.R., and P.Z.) approved the version to be published and agree to be accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved.


 

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