Genomic imbalances in craniofacial microsomia.

Autor:	Spineli-Silva S; Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil., Sgardioli IC; Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil., Dos Santos AP; Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil., Bergamini LL; Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Brazil., Monlleó IL; Faculty of Medicine, Federal University of Alagoas (UFAL), Maceió, Brazil.; Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Brazil., Fontes MIB; Clinical Genetics Service, University Hospital, Federal University of Alagoas (UFAL), Maceió, Brazil., Félix TM; Medical Genetics Service, Clinical Hospital of Porto Alegre (HCPA), Porto Alegre, Brazil., Ribeiro EM; Medical Genetics Service, Hospital Infantil Albert Sabin (HIAS), Fortaleza, Brazil., Xavier AC; Centre for Research and Rehabilitation of Lip and Palate Lesions, Centrinho Prefeito Luiz Gomes, Joinville, Brazil., Lustosa-Mendes E; Assistance Centre for Cleft Lip and Palate - CAIF-AFISSUR, Curitiba, Brazil., Gil-da-Silva-Lopes VL; Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil., Vieira TP; Department of Medical Genetics and Genomic Medicine, School of Medical Sciences, State University of Campinas (Unicamp), Campinas, Brazil.
Jazyk:	angličtina
Zdroj:	American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2020 Dec; Vol. 184 (4), pp. 970-985. Date of Electronic Publication: 2020 Nov 20.
DOI:	10.1002/ajmg.c.31857
Abstrakt:	The aim of this study was to perform 22q11.2 deletion screening and chromosomal microarray analysis (CMA) in individuals clinically diagnosed with craniofacial microsomia (CFM) and review previously published cases of CFM with genomic imbalances. It included 54 individuals who were evaluated by a clinical geneticist. Copy number variants (CNVs) in the 22q11.2 region were investigated by multiplex ligation-dependent probe amplification (MLPA) for all individuals. The CMA was performed only for individuals with additional major features. MLPA revealed pathogenic CNVs at the 22q11 region in 3/54 (5.6%) individuals. CMA revealed pathogenic CNVs in 4/17 (23.5%) individuals, including the three CNVs at the 22q11 region also detected by MLPA, and CNVs classified as variants of unknown significance (VOUS) in 4/17 (23.5%) individuals. Pathogenic alterations were found at the 2p12, 5p15, 13q13, and 22q11 regions. VOUS were found at 3q29, 5q22.2, 5q22.1, and 9p22 regions. All individuals with pathogenic alterations presented additional major features, including congenital heart disease (CHD). The literature review revealed pathogenic CNVs in 17/193 (8.8%) individuals and most of them also presented additional major features, such as CHD, renal anomalies, or developmental delay. In conclusion, CNVs should be investigated in patients with CFM and additional major features. (© 2020 Wiley Periodicals LLC.)
Databáze:	MEDLINE
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