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Review
. 2020 Dec;184(4):970-985.
doi: 10.1002/ajmg.c.31857. Epub 2020 Nov 20.

Genomic imbalances in craniofacial microsomia

Samira Spineli-Silva  1 , Ilária C Sgardioli  1 , Ana P Dos Santos  1 , Luna L Bergamini  2 , Isabella L Monlleó  2   3 , Marshall I B Fontes  3 , Têmis M Félix  4 , Erlane M Ribeiro  5 , Ana C Xavier  6 , Elaine Lustosa-Mendes  7 , Vera L Gil-da-Silva-Lopes  1 , Tarsis P Vieira  1
Affiliations
Review

Genomic imbalances in craniofacial microsomia

Samira Spineli-Silva et al. Am J Med Genet C Semin Med Genet. 2020 Dec.

Abstract

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.

Keywords: Goldenhar syndrome; chromosomal microarray analysis; craniofacial microsomia; multiplex ligation-dependent probe amplification; oculo-auriculo-vertebral spectrum.

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References

REFERENCES

    1. Ala-Mello, S., Siggberg, L., Knuutila, S., von Koskull, H., Taskinen, M., & Peippo, M. (2008). Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly. American Journal of Medical Genetics Part A, 146(19), 2490-2494.
    1. Ballesta-Martínez, M. J., López-González, V., Dulcet, L. A., Rodríguez-Santiago, B., Garcia-Miñaúr, S., & Guillen-Navarro, E. (2013). Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication. American Journal of Medical Genetics Part A, 161(8), 2030-2035.
    1. Beleza-Meireles, A., Clayton-Smith, J., Saraiva, J. M., & Tassabehji, M. (2014). Oculo-auriculo-vertebral spectrum: A review of the literature and genetic update. Journal of Medical Genetics, 51(10), 635-645.
    1. Beleza-Meireles, A., Hart, R., Clayton-Smith, J., Oliveira, R., Reis, C. F., Venâncio, M., … Tassabehji, M. (2015). Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients. European Journal of Medical Genetics, 58(9), 455-465.
    1. Birgfeld, C. B., Heike, C. L., Saltzman, B. S., Leroux, B. G., Evans, K. N., & Luquetti, D. V. (2016). Reliable classification of facial phenotypic variation in craniofacial microsomia: A comparison of physical exam and photographs. Head & Face Medicine, 12, 14.

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