DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.

TitleDPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients.
Publication TypeJournal Article
Year of Publication2018
AuthorsNg, BG, Underhill, HR, Palm, L, Bengtson, P, Rozet, J-M, Gerber, S, Munnich, A, Zanlonghi, X, Stevens, CA, Kircher, M, Nickerson, DA, Buckingham, KJ, Josephson, KD, Shendure, J, Bamshad, MJ, Freeze, HH, Eklund, EA
Corporate AuthorsUniversity of Washington Center for Mendelian Genomics
JournalJIMD Rep
Date Published2018 Aug 17
ISSN2192-8304
Abstract

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.

DOI10.1007/8904_2018_128
Alternate JournalJIMD Rep
PubMed ID30117111
Grant ListUM1 HG006493 / HG / NHGRI NIH HHS / United States