Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG.
CITATION STYLE
Ng, B. G., Underhill, H. R., Palm, L., Bengtson, P., Rozet, J. M., Gerber, S., … Eklund, E. A. (2019). DPAGT1 deficiency with encephalopathy (DPAGT1-CDG): Clinical and genetic description of 11 new patients. In JIMD Reports (Vol. 44, pp. 85–92). Springer. https://doi.org/10.1007/8904_2018_128
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