Defective DPAGT1 causes CDG-1j, CMSTA2

Stable Identifier
Homo sapiens
Defective DPAGT1 causes DPAGT1-CDG, CMSTA2
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UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase (DPAGT1) catalyses the initial committed step in the biosynthesis of dolichyl pyrophosphate-oligosaccharides. Defects in DPAGT1 cause congenital disorder of glycosylation 1j (DPAGT1-CDG, previously known as CDG-1j; MIM:608093), a multisystem disorder characterised by under-glycosylated serum glycoproteins (Wu et al. 2003, Timal et al. 2012). Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. Defects in DPAGT1 can also cause myasthenic syndrome, congenital, with tubular aggregates, 2 (CMSTA2; MIM:614750), characterised by muscle weakness of mainly the proximal limb muscles, with tubular aggregates present on muscle biopsy. Sufferers find walking difficult and fall frequently. Younger sufferers show hypotonia and poor head control. A disorder of neuromuscular transmission is detected on electromyography (Belaya et al. 2012, Finlayson et al. 2013).

Literature References
PubMed ID Title Journal Year
23447650 Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1

Pascual-Pascual, SI, Cossins, J, Walls, TJ, Norwood, F, Belaya, K, Finlayson, S, Beeson, D, Holton, JL, Palace, J, Burke, G

J. Neurol. Neurosurg. Psychiatr. 2013
22492991 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Paprocka, J, Thiel, C, Morava, E, Rodenburg, RJ, Hoischen, A, Timal, S, van Spronsen, FJ, Veltman, J, Wevers, RA, Jamroz, E, Adamowicz, M, Lefeber, DJ, Huijben, K, Eidhof, I, Sykut-Cegielska, J, Lehle, L, K├Ârner, C, Van den Heuvel, L, Gilissen, C

Hum. Mol. Genet. 2012
22742743 Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates

Maslau, S, Slater, CR, Cossins, J, Finlayson, S, Liu, WW, Walls, TJ, Twigg, SR, Belaya, K, Beeson, D, McGowan, SJ, Maxwell, S, Palace, J, Pascual Pascual, SI

Am. J. Hum. Genet. 2012
12872255 Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij

Rush, JS, Wu, X, Freeze, HH, Lubinsky, MS, Karaoglu, D, Waechter, CJ, Gilmore, R, Krasnewich, D

Hum Mutat 2003
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