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CASE REPORT article
Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 16 - 2025 | doi: 10.3389/fgene.2025.1565296
Autosomal Recessive Primary Microcephaly in Sibs in Time of Zika Epidemic: A Case Report
Provisionally accepted
Julia Valeriano de Almeida1,2*
Natana Chaves Rabelo1Bianca Barbosa Abdala1Juan Clinton Llerena Junior1*Sayonara Gonzalez1- 1Fernandes Figueira Institute (IFF), Rio de Janeiro, Brazil
- 2Rio de Janeiro State Federal University, Rio de Janeiro, Rio de Janeiro, Brazil
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Case report of two siblings, born to consanguineous parents, with congenital microcephaly secondary to pathogenic homozygous ASPM gene variant. Proband was born during the Zika virus epidemic, with a prenatal history of maternal exanthematous disease. Genetic diagnosis was made after the birth of the sibling, born with a similar condition. Next-generation sequencing enables a definitive diagnosis in cases of microcephaly, and genetic diagnosis should be pursued even when patient history points to a possible, but not definite, environmental cause. Conclusive genetic diagnosis allows for precise and timely family planning and counseling.
Keywords: Microcephaly, MCPH, ASPM, Congenital Zika syndrome, Autosomal recessive primary microcephaly
Received: 23 Jan 2025; Accepted: 17 Apr 2025.
Copyright: © 2025 de Almeida, Rabelo, Abdala, Llerena Junior and Gonzalez. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Julia Valeriano de Almeida, Fernandes Figueira Institute (IFF), Rio de Janeiro, Brazil
Juan Clinton Llerena Junior, Fernandes Figueira Institute (IFF), Rio de Janeiro, Brazil
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.