Abstract:
OBJECTIVE:To define the phenotypic spectrum of phosphatidylinositol glycan class A protein (PIGA)-related congenital disorder of glycosylation (PIGA-CDG) and evaluate genotype-phenotype correlations. METHODS:Our cohort encompasses 40 affected males with a pathogenic PIGA variant. We performed a detailed phenotypic assessment, and in addition, we reviewed the available clinical data of 36 previously published cases and assessed the variant pathogenicity using bioinformatical approaches. RESULTS:Most individuals had hypotonia, moderate to profound global developmental delay, and intractable seizures. We found that PIGA-CDG spans from a pure neurological phenotype at the mild end to a Fryns syndrome-like phenotype. We found a high frequency of cardiac anomalies including structural anomalies and cardiomyopathy, and a high frequency of spontaneous death, especially in childhood. Comparative bioinformatical analysis of common variants, found in the healthy population, and pathogenic variants, identified in affected individuals, revealed a profound physiochemical dissimilarity of the substituted amino acids in variant constrained regions of the protein. SIGNIFICANCE:Our comprehensive analysis of the largest cohort of published and novel PIGA patients broadens the spectrum of PIGA-CDG. Our genotype-phenotype correlation facilitates the estimation on pathogenicity of variants with unknown clinical significance and prognosis for individuals with pathogenic variants in PIGA.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Bayat A,Knaus A,Pendziwiat M,Afenjar A,Barakat TS,Bosch F,Callewaert B,Calvas P,Ceulemans B,Chassaing N,Depienne C,Endziniene M,Ferreira CR,Moura de Souza CF,Freihuber C,Ganesan S,Gataullina S,Guerrini R,Guerrot AM,doi
10.1111/epi.16545subject
Has Abstractpub_date
2020-06-01 00:00:00pages
1142-1155issue
6eissn
0013-9580issn
1528-1167journal_volume
61pub_type
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