Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene

• Autor(a) principal: Rosado Santos, Rita
• Data de Publicação: 2022
• Outros Autores: Rodrigues, Márcia, Loureiro, Teresa
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18606
• topic: Lissencephaly/genetics; Malformations of Cortical Development; Mutation/genetics; Prenatal Diagnosis; Ubiquinone; Diagnóstico Prenatal; Lisencefalia; Mutações/genética; Perturbações da Migração Neuronal; Ubiquinona

Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be depicted on fetal neurosonography by persistence of a laminar pattern beyond 34 weeks and abnormal cortical sulcation. We report an index case of a male fetus diagnosed with abnormal lamination, characterized by the persistence of a laminar pattern during late pregnancy, following a normal second trimester scan. Post-natal whole exome sequencing revealed biallelic pathologic variants in the COQ2 gene which encodes an enzyme that is part of coenzyme Q10 (COQ10 or ubiquinone) pathway and is involved in the biosynthesis of CoQ, a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This case underscores the heterogeneity of the prenatal phenotypic presentation of pathogenic variants in the COQ2, namely lissencephaly.