Expanding the molecular and clinical phenotypes of FUT8-CDG.
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.
['Ng|Bobby G|BG|0000-0003-0649-848X', 'Dastsooz|Hassan|H|', 'Silawi|Mohammad|M|', 'Habibzadeh|Parham|P|', 'Jahan|Shima B|SB|', 'Fard|Mohammad A F|MAF|', 'Halliday|Benjamin J|BJ|', 'Raymond|Kimiyo|K|', 'Ruzhnikov|Maura R Z|MRZ|', 'Tabatabaei|Zahra|Z|', 'Taghipour-Sheshdeh|Afsaneh|A|', 'Brimble|Elise|E|', 'Robertson|Stephen P|SP|', 'Faghihi|Mohammad A|MA|', 'Freeze|Hudson H|HH|']
D018981:Congenital Disorders of Glycosylation D005260:Female D005643:Fucose D005647:Fucosyltransferases D006801:Humans D008297:Male D013058:Mass Spectrometry D010641:Phenotype D011134:Polysaccharides D000073359:Whole Exome Sequencing
N-glycans core fucosylation congenital disorders of glycosylation mass spectrometry whole exome sequencing