AUTHOR=Almeida Julia V. , Abdala Bianca Barbosa , Rabelo Natana Chaves , Gomes Maria Eduarda , Ferreira Bastos Elenice , Llerena Juan Clinton , Gonzalez Sayonara 

TITLE=Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report

JOURNAL=Frontiers in Genetics

VOLUME=Volume 16 - 2025

YEAR=2025

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2025.1565296

DOI=10.3389/fgene.2025.1565296

ISSN=1664-8021

ABSTRACT=Case report of two siblings, born to consanguineous parents, with congenital microcephaly secondary to a pathogenic homozygous ASPM 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.