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Article

Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.

American journal of medical genetics. Part A - 1 Apr 2021

Lugli Licia, Bariola Maria Carolina, Ferri Lorenzo, Lucaccioni Laura, Bertucci Emma, Cattini Umberto, Torcetta Francesco, Morrone Amelia, Iughetti Lorenzo, Berardi Alberto

Abstract excerpt

Congenital disorders of glycosylation (CDG) are an expanding group of metabolic disorders that result from abnormal protein glycosylation. A special subgroup of CDG type II comprises defects in the Conserved Oligomeric Golgi Complex (COG). In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel variant of COG6 gene found in homozygosity in a Moroccan patient...

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PMID: 33394555
DOI: 10.1002/ajmg.a.62061

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