ArticleHuman molecular genetics2019
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 54 citations in OpenAlex.
- Discovery of cell-active small molecule inhibitors of UDP-galactose 4'-epimerase.bioRxiv : the preprint server for biology · 2026Article
- Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia.Journal of clinical immunology · 2026Article
- Transcriptome and DNA methylation responses in the liver of Megalobrama amblycephala under hypoxia and heat stress.Fish physiology and biochemistry · 2026Article
- M2 macrophage-derived lncRNA NORAD in EVs promotes NSCLC progression via miR-520g-3p/SMIM22/GALE axis.NPJ precision oncology · 2024Article
- Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.Orphanet journal of rare diseases · 2024Review
- Pyroptosis regulation byFrontiers in immunology · 2024Review
- The clinical utility of rapid exome sequencing in a consanguineous population.Genome medicine · 2023Article
- Inside-to-outside and back to the future of megakaryopoiesis.Research and practice in thrombosis and haemostasis · 2023Article
- Inherited Thrombocytopenia Caused by Variants in Crucial Genes for Glycosylation.International journal of molecular sciences · 2023Review
- Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.Blood · 2023Article
- The Importance of Neonatal Screening for Galactosemia.Nutrients · 2022Review
- Galactose epimerase deficiency: lessons from the GalNet registry.Orphanet journal of rare diseases · 2022Observational
- Syndromes predisposing to leukemia are a major cause of inherited cytopenias in children.Haematologica · 2022Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- Review
- COL4A1/COL4A2 and inherited platelet disorder gene variants in fetuses showing intracranial hemorrhage.Prenatal diagnosis · 2022Article
- Article
- The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan.International journal of neonatal screening · 2021Review
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- Estrogen-Driven Changes in Immunoglobulin G Fc Glycosylation.Experientia supplementum (2012) · 2021Review
Corrections and comments
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
Abstract
Severe thrombocytopenia, characterized by dysplastic megakaryocytes and intracranial bleeding, was diagnosed in six individuals from a consanguineous kindred. Three of the individuals were successfully treated by bone marrow transplant. Whole-exome sequencing and homozygosity mapping of multiple family members, coupled with whole-genome sequencing to reveal shared non-coding variants, revealed one potentially functional variant segregating with thrombocytopenia under a recessive model: GALE p.R51W (c.C151T, NM_001127621). The mutation is extremely rare (allele frequency = 2.5 × 10-05), and the likelihood of the observed co-segregation occurring by chance is 1.2 × 10-06. GALE encodes UDP-galactose-4-epimerase, an enzyme of galactose metabolism and glycosylation responsible for two reversible reactions: interconversion of UDP-galactose with UDP-glucose and interconversion of UDP-N-acetylgalactosamine with UDP-N-acetylglucosamine. The mutation alters an amino acid residue that is conserved from yeast to humans. The variant protein has both significantly lower enzymatic activity for both interconversion reactions and highly significant thermal instability. Proper glycosylation is critical to normal hematopoiesis, in particular to megakaryocyte and platelet development, as reflected in the presence of thrombocytopenia in the context of congenital disorders of glycosylation. Mutations in GALE have not previously been associated with thrombocytopenia. Our results suggest that GALE p.R51W is inadequate for normal glycosylation and thereby may impair megakaryocyte and platelet development. If other mutations in GALE are shown to have similar consequences, this gene may be proven to play a critical role in hematopoiesis.
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Registered trials
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