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Krenn, M.* ; Knaus, A.* ; Westphal, D.S. ; Wortmann, S.B. ; Polster, T.* ; Woermann, F.G.* ; Karenfort, M.* ; Mayatepek, E.* ; Meitinger, T. ; Wagner, M. ; Distelmaier, F.*

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.

Ann. Clin. Transl. Neurol. 6, 968-973 (2019)
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Developmental and epileptic encephalopathies are characterized by infantile seizures and psychomotor delay. Glycosylphosphatidylinositol biosynthesis defects, resulting in impaired tethering of various proteins to the cell surface, represent the underlying pathology in some patients. One of the genes involved, PIGP, has recently been associated with infantile seizures and developmental delay in two siblings. Here, we report the second family with a markedly overlapping phenotype due to a homozygous frameshift mutation (c.456delA;p.Glu153Asnfs*34) in PIGP. Flow cytometry of patient granulocytes confirmed reduced expression of glycosylphosphatidylinositol-anchored proteins as functional consequence. Our findings corroborate PIGP as a monogenic disease gene for developmental and epileptic encephalopathy.
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2019
HGF-reported in Year 2019
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Journal Annals of Clinical and Translational Neurology
Quellenangaben Volume: 6, Issue: 5, Pages: 968-973 Article Number: , Supplement: ,
Publisher Wiley
Publishing Place Chichester [u.a.]
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
Institute of Neurogenomics (ING)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
30205 - Bioengineering and Digital Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
G-503200-001
DOI 10.1002/acn3.768
WOS ID WOS:000468630000016
Scopus ID 85066074973
PubMed ID 31139695
Erfassungsdatum 2019-06-05
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