TY - JOUR
T1 - Expanding the molecular and clinical phenotypes of FUT8-CDG
AU - Ng, Bobby G.
AU - Dastsooz, Hassan
AU - Silawi, Mohammad
AU - Habibzadeh, Parham
AU - Jahan, Shima B.
AU - Fard, Mohammad A.F.
AU - Halliday, Benjamin J.
AU - Raymond, Kimiyo
AU - Ruzhnikov, Maura R.Z.
AU - Tabatabaei, Zahra
AU - Taghipour-Sheshdeh, Afsaneh
AU - Brimble, Elise
AU - Robertson, Stephen P.
AU - Faghihi, Mohammad A.
AU - Freeze, Hudson H.
N1 - Funding Information:
information Genomics Aotearoa; Curekids; National Institutes of Health, Grant/Award Number: R01DK099551; Bella Conneran Foundation; Rocket FundWe would like to thank all the families for their continued support and for providing valuable biological specimens. This work is supported by The Rocket Fund and The Bella Conneran Foundation, National Institutes of Health (NIH) grants R01DK099551 (to H.H.F). SPR is supported by Curekids (NZ) and Genomics Aotearoa. This paper is dedicated to the memory of Bella Conneran.
PY - 2020/7/1
Y1 - 2020/7/1
N2 - 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.
AB - 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.
KW - N-glycans
KW - congenital disorders of glycosylation
KW - core fucosylation
KW - mass spectrometry
KW - whole exome sequencing
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U2 - 10.1002/jimd.12221
DO - 10.1002/jimd.12221
M3 - Article
C2 - 32049367
AN - SCOPUS:85087848423
VL - 43
SP - 871
EP - 879
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 4
ER -