A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

doi:10.1002/ajmg.a.62474

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Article

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

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

Ziburová Jana, Nemčovič Marek, Šesták Sergej, Bellová Jana, Pakanová Zuzana, Siváková Barbara, Šalingová Anna, Šebová Claudia, Ostrožlíková Mária, Lekka Dimitra-Evanthia, Brucknerová Jana, Brucknerová Ingrid, Skokňová Martina, Mc Cullough Alexandra, Hrčková Gabriela, Hlavatá Anna, Bzdúch Vladimír, Mucha Ján, Baráth Peter

Abstract excerpt

Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by a defect in alpha-mannosyltransferase 8, encoded by the ALG12 gene (22q13.33). To date, only 15 patients have been diagnosed with ALG12-CDG globally. Due to a newborn Slovak patient's clinical and biochemical abnormalities, the isoelectric focusing of transferrin was performed with observed significant...

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PMID: 34467644
DOI: 10.1002/ajmg.a.62474
PMCID: PMC9291070

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