ArticleAmerican journal of hematology2011
Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
Article in American journal of hematology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 26 citations in OpenAlex.
- Additive effect of multiple genetic variants inHemaSphere · 2026Article
- Novel genotype-phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)Human genetics · 2024Article
- Congenital dyserythropoietic anemia types Ib, II, and III: novel variants in the CDIN1 gene and functional study of a novel variant in the KIF23 gene.Annals of hematology · 2021Article
- RAP-011 Rescues the Disease Phenotype in a Cellular Model of Congenital Dyserythropoietic Anemia Type II by Inhibiting the SMAD2-3 Pathway.International journal of molecular sciences · 2020Article
- Stem cell transplantation for congenital dyserythropoietic anemia: an analysis from the European Society for Blood and Marrow Transplantation.Haematologica · 2019Article
- CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.Frontiers in physiology · 2019Article
- Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.American journal of human genetics · 2015Article
- Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Molecular and cellular biology · 2014Article
- Fabry disease: Evidence for a regional founder effect of theMolecular genetics and metabolism reports · 2014Article
- Review
- Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Haematologica · 2012Review
- Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.Orphanet journal of rare diseases · 2011Article
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Authors and funding
11 authors at 5 institutions in 3 countries.
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Abstract
Congenital Dyserythropoietic Anemia type II is an autosomal recessive disorder characterized by unique abnormalities in the differentiation of cells of the erythroid lineage. The vast majority of CDA II cases result from mutations in the SEC23B gene. To date, 53 different causative mutations have been reported in 86 unrelated cases (from the CDA II European Registry), 47 of them Italian. We have now identified SEC23B mutations in 23 additional patients, 17 Italians and 6 non-Italian Europeans. The relative allelic frequency of the mutations was then reassessed in a total of 64 Italian and 45 non-Italian unrelated patients. Two mutations, E109K and R14W, account for over one-half of the cases of CDA II in Italy. Whereas the relative frequency of E109K is similar in Italy and in the rest of Europe (and is also prevalent in Moroccan Jews), the relative frequency of R14W is significantly higher in Italy (26.3% vs. 10.7%). By haplotype analysis we demonstrated that both are founder mutations in the Italian population. By using the DMLE+ program our estimate for the age of the E109K mutation in Italian population is ≈2,200 years; whereas for the R14W mutation it is ≈3,000 years. We hypothesize that E109K may have originated in the Middle East and may have spread in the heyday of the Roman Empire. Instead, R14W may have originated in Southern Italy. The relatively high frequency of the R14W mutation may account for the known increased prevalence of CDA II in Italy.
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