Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

Two novel cases with PIGQ-CDG: expansion of the genotype–phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool

IntroductionThe glycosylphosphatidylinositol (GPI) anchor is a glycolipid that anchors proteins to the eukaryotic cell surface. An anchoring process is a posttranslational modification of at least 150 molecules with various functions. Biallelic causal variants in the PIGQ gene (OMIM: * 605754) are a...

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Bibliographic Details
Main Authors: Katarína Kušíková, Tzung-Chien Hsieh, Mateja Pfeifer, Christine Fauth, Yoshiko Murakami, Franco Laccone, Daniela Karall, Walter Bonfig, Helen Stewart, Denisa Weis
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Genetics
Subjects:
PIGQ-CDG
PIGQ gene
GPI-anchor
GPI-anchor deficiency
MCAHS4
rhabdomyolysis
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1598602/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1598602/full

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