JIMD Reports, Volume 44

Ng, Bobby G, Underhill, Hunter R, Palm, Lars, Bengtson, Per, Rozet, Jean-Michel, Gerber, Sylvie, Munnich, Arnold, Zanlonghi, Xavier, Stevens, Cathy A, Kircher, Martin, Nickerson, Deborah A, Buckingham, Kati J, Josephson, Kevin D, Shendure, Jay, Bamshad, Michael J, , , Freeze, Hudson H, Eklund, Erik A, Bobby G. Ng, Hunter R. Underhill, Lars Palm, Per Bengtson, Jean-Michel Rozet, Sylvie Gerber, Arnold Munnich, Xavier Zanlonghi, Cathy A. Stevens, Martin Kircher, Deborah A. Nickerson, Kati J. Buckingham, Kevin D. Josephson, Jay Shendure, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Hudson H. Freeze, Erik A. Eklund, Ng, Bobby G., Underhill, Hunter R., Stevens, Cathy A., Nickerson, Deborah A., Buckingham, Kati J., Josephson, Kevin D., Bamshad, Michael J., Freeze, Hudson H., Eklund, Erik A.

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.