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

Authors

  • Rita Rosado Santos Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa.
  • Márcia Rodrigues Serviço de Genética Médica. Departamento de Pediatra. Hospital de Santa Maria Centro Hospitalar Universitário Lisboa Norte. Lisboa.
  • Teresa Loureiro Departamento de Obstetrícia, Ginecologia e Medicina da Reprodução. Hospital de Santa Maria. Centro Hospitalar Universitário Lisboa Norte. Lisboa. Faculdade de Medicina. Universidade de Lisboa. Lisboa.

DOI:

https://doi.org/10.20344/amp.18606

Keywords:

Lissencephaly/genetics, Malformations of Cortical Development, Mutation/genetics, Prenatal Diagnosis, Ubiquinone

Abstract

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.

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Published

2022-09-28

How to Cite

1.
Rosado Santos R, Rodrigues M, Loureiro T. Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene. Acta Med Port [Internet]. 2022 Sep. 28 [cited 2023 Feb. 2];. Available from: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/18606

Issue

Section

Case Report