Expanding the molecular and clinical phenotypes of FUT8-CDG

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

doi:10.1002/jimd.12221

Expanding the molecular and clinical phenotypes of FUT8-CDG

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

Psychiatry & Behavioral Sciences

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English (US)
Pages (from-to)	871-879
Number of pages	9
Journal	Journal of Inherited Metabolic Disease
Volume	43
Issue number	4
DOIs	https://doi.org/10.1002/jimd.12221
State	Published - Jul 1 2020

Keywords

N-glycans
congenital disorders of glycosylation
core fucosylation
mass spectrometry
whole exome sequencing

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Ng, B. G., Dastsooz, H., Silawi, M., Habibzadeh, P., Jahan, S. B., Fard, M. A. F., Halliday, B. J., Raymond, K., Ruzhnikov, M. R. Z., Tabatabaei, Z., Taghipour-Sheshdeh, A., Brimble, E., Robertson, S. P., Faghihi, M. A., & Freeze, H. H. (2020). Expanding the molecular and clinical phenotypes of FUT8-CDG. Journal of Inherited Metabolic Disease, 43(4), 871-879. https://doi.org/10.1002/jimd.12221

Expanding the molecular and clinical phenotypes of FUT8-CDG. / 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.

In: Journal of Inherited Metabolic Disease, Vol. 43, No. 4, 01.07.2020, p. 871-879.

Research output: Contribution to journal › Article › peer-review

Ng, BG, Dastsooz, H, Silawi, M, Habibzadeh, P, Jahan, SB, Fard, MAF, Halliday, BJ, Raymond, K, Ruzhnikov, MRZ, Tabatabaei, Z, Taghipour-Sheshdeh, A, Brimble, E, Robertson, SP, Faghihi, MA & Freeze, HH 2020, 'Expanding the molecular and clinical phenotypes of FUT8-CDG', Journal of Inherited Metabolic Disease, vol. 43, no. 4, pp. 871-879. https://doi.org/10.1002/jimd.12221

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. / Expanding the molecular and clinical phenotypes of FUT8-CDG. In: Journal of Inherited Metabolic Disease. 2020 ; Vol. 43, No. 4. pp. 871-879.

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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.",

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note = "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. Publisher Copyright: {\textcopyright} 2020 SSIEM",

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AU - Dastsooz, Hassan

AU - Silawi, Mohammad

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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. Publisher Copyright: © 2020 SSIEM

PY - 2020/7/1

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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.

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Expanding the molecular and clinical phenotypes of FUT8-CDG

Abstract

Keywords

ASJC Scopus subject areas

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