DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients
(2018) In JIMD Reports 44. p.85-92- 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... (More)
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.
(Less)
- author
- organization
- publishing date
- 2018-08-17
- type
- Chapter in Book/Report/Conference proceeding
- publication status
- published
- subject
- host publication
- JIMD Reports
- series title
- JIMD Reports
- volume
- 44
- pages
- 8 pages
- publisher
- Springer
- external identifiers
-
- pmid:30117111
- scopus:85060819373
- ISSN
- 2192-8304
- 2192-8312
- DOI
- 10.1007/8904_2018_128
- language
- English
- LU publication?
- yes
- id
- 0e263420-13b0-42bd-b0bf-908e8de9c948
- date added to LUP
- 2019-02-12 13:54:39
- date last changed
- 2024-06-11 04:39:00
@inbook{0e263420-13b0-42bd-b0bf-908e8de9c948,
abstract = {{<p>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.</p>}},
author = {{Ng, Bobby G. and Underhill, Hunter R. and Palm, Lars and Bengtson, Per and Rozet, Jean Michel and Gerber, Sylvie and Munnich, Arnold and Zanlonghi, Xavier and Stevens, Cathy A. and Kircher, Martin and Nickerson, Deborah A. and Buckingham, Kati J. and Josephson, Kevin D. and Shendure, Jay and Bamshad, Michael J. and Freeze, Hudson H. and Eklund, Erik A.}},
booktitle = {{JIMD Reports}},
issn = {{2192-8304}},
language = {{eng}},
month = {{08}},
pages = {{85--92}},
publisher = {{Springer}},
series = {{JIMD Reports}},
title = {{DPAGT1 deficiency with encephalopathy (DPAGT1-CDG) : Clinical and genetic description of 11 new patients}},
url = {{http://dx.doi.org/10.1007/8904_2018_128}},
doi = {{10.1007/8904_2018_128}},
volume = {{44}},
year = {{2018}},
}