TY - JOUR AU - Rosado Santos, Rita AU - Rodrigues, Márcia AU - Loureiro, Teresa PY - 2022/09/28 Y2 - 2024/03/29 TI - Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene JF - Acta Médica Portuguesa JA - Acta Med Port VL - 36 IS - 6 SE - Case Report DO - 10.20344/amp.18606 UR - https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18606 SP - 428-431 AB - <p class="Keywords">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 <em>COQ2</em> 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 <em>COQ2</em>, namely lissencephaly.</p> ER -