ArticleMolecular genetics & genomic medicine2019
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Role ofBiomedical reports · 2024Review
- Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.Human genetics · 2021Article
- Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.Journal of inherited metabolic disease · 2020Review
- Early infantile epileptic-dyskinetic encephalopathy due to biallelicNeurology. Genetics · 2020Article
- Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.Molecular genetics & genomic medicine · 2019Article
- Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.Molecular genetics and metabolismArticle
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6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundGlycophosphatidylinositol-anchored proteins (GPI-APs) mediate several physiological processes such as embryogenesis and neurogenesis. Germline variants in genes involved in their synthesis can disrupt normal development and result in a variety of clinical phenotypes. With the advent of new sequencing technologies, more cases are identified, leading to a rapidly growing number of reported genetic variants. With this number expected to rise with increased accessibility to molecular tests, an accurate and up-to-date database is needed to keep track of the information and help interpret results.
methodsWe therefore developed an online resource (www.gpibiosynthesis.org) which compiles all published pathogenic variants in GPI biosynthesis genes which are deposited in the LOVD database. It contains 276 individuals and 192 unique public variants; 92% of which are predicted as damaging by bioinformatics tools.
resultsA significant proportion of recorded variants was substitution variants (81%) and resulted mainly in missense and frameshift alterations. Interestingly, five patients (2%) had deleterious mutations in untranslated regions. CADD score analysis placed 97% of variants in the top 1% of deleterious variants in the human genome. In genome aggregation database, the gene with the highest frequency of reported pathogenic variants is PIGL, with a carrier rate of 1/937.
conclusionWe thus present the GPI biosynthesis database and review the molecular genetics of published variants in GPI-anchor biosynthesis genes.
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