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JIMD Rep. 2019;44:85-92. doi: 10.1007/8904_2018_128. Epub 2018 Aug 17.

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

Author information

1
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA.
2
Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.
3
Division of Pediatrics, Skane University Hospital, Malmö, Sweden.
4
Clinical Chemistry, Skane University Hospital, Lund, Sweden.
5
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, Paris, France.
6
Department of Genetics, Hôpital Necker-Enfants Malades, APHP, Paris Descartes University, Paris, France.
7
Clinique Jules Vernes, Nantes, France.
8
Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN, USA.
9
Department of Genome Sciences, University of Washington, Seattle, WA, USA.
10
Department of Pediatrics, University of Washington, Seattle, WA, USA.
11
Gundersen Health System, LaCrosse, WI, USA.
12
Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
13
Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, USA. erik.eklund@med.lu.se.
14
Division of Pediatrics, Lund University, Lund, Sweden. erik.eklund@med.lu.se.

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.

KEYWORDS:

CDG; DPAGT1; Early-onset epilepsy; Exome sequencing; Glycosylation; Intellectual disability

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