Expanding the molecular and clinical phenotypes of FUT8‐CDG. Issue 4 (23rd February 2020)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: Journal of inherited metabolic disease. Volume 43:Issue 4(2020)
• Page Start: 871
• Page End: 879
• Publication Date: 2020-02-23
• Subjects: congenital disorders of glycosylation -- core fucosylation -- mass spectrometry -- N‐glycans -- whole exome sequencing; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jimd.12221
• Languages: English
• ISSNs: 0141-8955

Abstract

Abstract: 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 complications, and shortened lifespan. Here, we report an additional four unrelated affected individuals homozygous for novel pathogenic variants in FUT8. Analysis of serum N ‐glycans revealed a complete lack of core fucosylation, an important diagnostic biomarker of FUT8‐CDG. Our data expands both the molecular and clinical phenotypes of FUT8‐CDG and highlights the importance of identifying a reliable biomarker for confirming potentially pathogenic variants.