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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)
Verlagsversion DOI PMC
Open Access Gold
Creative Commons Lizenzvertrag
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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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Sprache englisch
Veröffentlichungsjahr 2019
HGF-Berichtsjahr 2019
ISSN (print) / ISBN 2328-9503
e-ISSN 2328-9503
Zeitschrift Annals of Clinical and Translational Neurology
Quellenangaben Band: 6, Heft: 5, Seiten: 968-973 Artikelnummer: , Supplement: ,
Verlag Wiley
Verlagsort Chichester [u.a.]
Begutachtungsstatus Peer reviewed
Institut(e) 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
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) 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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