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Article

Expanding the molecular and clinical phenotypes of FUT8-CDG.

Journal of inherited metabolic disease - 1 Jul 2020

Ng Bobby G, Dastsooz Hassan, Silawi Mohammad, Habibzadeh Parham, Jahan Shima B, Fard Mohammad A F, Halliday Benjamin J, Raymond Kimiyo, Ruzhnikov Maura R Z, Tabatabaei Zahra, Taghipour-Sheshdeh Afsaneh, Brimble Elise, Robertson Stephen P, Faghihi Mohammad A, Freeze Hudson H

Abstract excerpt

Pathogenic variants in the Golgi localised alpha 1,6 fucosyltransferase, FUT8, cause a rare inherited metabolic disorder known as FUT8-CDG. To date, only three affected individuals have been reported presenting with a constellation of symptoms including intrauterine growth restriction, severe delays in growth and development, other neurological impairments, significantly shortened limbs, respiratory...

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Identifiers

PMID: 32049367
DOI: 10.1002/jimd.12221
PMCID: PMC7359201

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