Journal article

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A Bacino, Rita Barone, Lorenzo D Botto, Jennifer E Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S Cohen, David Coman, Katrina M Dipple, Naghmeh Dorrani, William B Dobyns, Abdallah F Elias, Leon Epstein, William A Gahl, Domenico Garozzo, Trine Bjorg Hammer Show all

Human Mutation | WILEY | Published : 2019

Abstract

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin N-glycosylation, a common biomarker for most typ..

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Grants

Awarded by National Institutes of Health (NIH)


Awarded by National Science Center


Awarded by NIH (NINDS)


Funding Acknowledgements

National Institutes of Health (NIH), Grant/Award Number: R01DK099551; The Rocket Fund; National Science Center, Grant/Award Number: 2016/21/B/NZ5/00144; NIH (NINDS), Grant/Award Numbers: 5R01NS050375, 1R01NS058721