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Journal of Autism and Developmental Disorders

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11-12-2022 | Original Paper

Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature

Auteurs: Giovanna Cantini Tolezano, Giovanna Civitate Bastos, Silvia Souza da Costa, Bruna Lucheze Freire, Thais Kataoka Homma, Rachel Sayuri Honjo, Guilherme Lopes Yamamoto, Maria Rita Passos-Bueno, Celia Priszkulnik Koiffmann, Chong Ae Kim, Angela Maria Vianna-Morgante, Alexander Augusto de Lima Jorge, Débora Romeo Bertola, Carla Rosenberg, Ana Cristina Victorino Krepischi

Gepubliceerd in: Journal of Autism and Developmental Disorders | Uitgave 3/2024

Abstract

Microcephaly presents heterogeneous genetic etiology linked to several neurodevelopmental disorders (NDD). Copy number variants (CNVs) are a causal mechanism of microcephaly whose investigation is a crucial step for unraveling its molecular basis. Our purpose was to investigate the burden of rare CNVs in microcephalic individuals and to review genes and CNV syndromes associated with microcephaly. We performed chromosomal microarray analysis (CMA) in 185 Brazilian patients with microcephaly and evaluated microcephalic patients carrying < 200 kb CNVs documented in the DECIPHER database. Additionally, we reviewed known genes and CNV syndromes causally linked to microcephaly through the PubMed, OMIM, DECIPHER, and ClinGen databases. Rare clinically relevant CNVs were detected in 39 out of the 185 Brazilian patients investigated by CMA (21%). In 31 among the 60 DECIPHER patients carrying < 200 kb CNVs, at least one known microcephaly gene was observed. Overall, four gene sets implicated in microcephaly were disclosed: known microcephaly genes; genes with supporting evidence of association with microcephaly; known macrocephaly genes; and novel candidates, including OTUD7A, BBC3, CNTN6, and NAA15. In the review, we compiled 957 known microcephaly genes and 58 genomic CNV loci, comprising 13 duplications and 50 deletions, which have already been associated with clinical findings including microcephaly. We reviewed genes and CNV syndromes previously associated with microcephaly, reinforced the high CMA diagnostic yield for this condition, pinpointed novel candidate loci linked to microcephaly deserving further evaluation, and provided a useful resource for future research on the field of neurodevelopment.

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Titel: Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature
Auteurs: Giovanna Cantini Tolezano
Giovanna Civitate Bastos
Silvia Souza da Costa
Bruna Lucheze Freire
Thais Kataoka Homma
Rachel Sayuri Honjo
Guilherme Lopes Yamamoto
Maria Rita Passos-Bueno
Celia Priszkulnik Koiffmann
Chong Ae Kim
Angela Maria Vianna-Morgante
Alexander Augusto de Lima Jorge
Débora Romeo Bertola
Carla Rosenberg
Ana Cristina Victorino Krepischi
Publicatiedatum: 11-12-2022
Uitgeverij: Springer US
Gepubliceerd in: Journal of Autism and Developmental Disorders / Uitgave 3/2024
Print ISSN: 0162-3257
Elektronisch ISSN: 1573-3432
DOI: https://doi.org/10.1007/s10803-022-05853-z

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