The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant

Murat Buyukdogan; Veysel Sabri Hancer; Ayhan Sucak

doi:10.1159/000527221

The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant

Mol Syndromol. 2023 Apr;14(2):181-183. doi: 10.1159/000527221. Epub 2023 Jan 13.

Authors

Murat Buyukdogan¹, Veysel Sabri Hancer², Ayhan Sucak³

Affiliations

¹ Department of Medical Genetics, Faculty of Medicine, Istinye University, Istanbul, Turkey.
² Department of Medical Biology, Faculty of Medicine, Istinye University, Istanbul, Turkey.
³ Department of Gynecology and Obstetrics, Faculty of Medicine, Istinye University, Istanbul, Turkey.

Abstract

Introduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides.

Case presentation: In this research, prenatal testing (24th week of pregnancy) revealed findings like polyhydramnios, hydrocephaly, abnormal facial features/shape, brain morphology abnormality, spina bifida, vertebral column abnormality, macrocephaly, scoliosis, micrognathia, abnormal kidney morphology, short fetal femur length, and short fetal humerus length in the fetus. Whole-exome sequencing was performed; the COG5 gene has shown a pathogenic variant.

Discussion: Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygous COG5 c.95T>G variant.

Keywords: COG5; Congenital disorder of glycosylation; Fetus; Mutation; Prenatal testing.

Publication types

Case Reports

Grants and funding

The authors did not receive support from any organization for the submitted work.