Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report
Case report of two siblings, born to consanguineous parents, with congenital microcephaly secondary to a pathogenic homozygous <i>ASPM</i> gene variant. The 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 the patient history points to a possible, but not definite, environmental cause. Conclusive genetic diagnosis allows for precise and timely family planning and counseling.
Authors
- Maria Eduarda Gomes (ORCID: https://orcid.org/0000-0002-2695-4529)
- Juan Clinton Llerena (ORCID: https://orcid.org/0000-0002-4308-3841)
- Elenice Ferreira Bastos (ORCID: https://orcid.org/0000-0002-5991-788X)
- Natana Chaves Rabelo (ORCID: https://orcid.org/0000-0003-1818-8614)
- Bianca Barbosa Abdala
- Julia Valeriano de Almeida (ORCID: https://orcid.org/0000-0002-0468-0125)
- Sayonara Gonzalez
Institutions
- Fundação Oswaldo Cruz (BR)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-22
- DOI
- https://doi.org/10.3389/fgene.2025.1565296
- Citations
- 2
- Primary Topic
- Mosquito-borne diseases and control
- Type
- article
- Field-Weighted Citation Impact
- 3.76
Funders
- Conselho Nacional de Desenvolvimento Científico e Tecnológico
- Fundação Oswaldo Cruz
- Foundation for Scientific and Technological Development in Health