ArticleHaematologica2010
Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.
Article in Haematologica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 62 citations in OpenAlex.
- Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).Blood cells, molecules & diseases · 2021Trial
- Article
- A Case of Congenital Dyserythropoietic Anemia Masked by Hemoglobin H Disease.Mediterranean journal of hematology and infectious diseases · 2024Article
- New Cases and Mutations inInternational journal of molecular sciences · 2023Article
- SEC23B Loss-of-Function Suppresses Hepcidin Expression by Impairing Glycosylation Pathway in Human Hepatic Cells.International journal of molecular sciences · 2022Article
- Epigenetic and Transcriptional Control of Erythropoiesis.Frontiers in genetics · 2022Review
- Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.International journal of hematology · 2021Article
- 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
- A Unique Epigenomic Landscape Defines Human Erythropoiesis.Cell reports · 2019Article
- A case report of congenital erythropoietic anemia II in China with a novel mutation.Annals of hematology · 2019Article
- CoDysAn: A Telemedicine Tool to Improve Awareness and Diagnosis for Patients With Congenital Dyserythropoietic Anemia.Frontiers in physiology · 2019Article
- Absence of a red blood cell phenotype in mice with hematopoietic deficiency of SEC23B.Molecular and cellular biology · 2014Article
- Trafficking mechanisms of extracellular matrix macromolecules: insights from vertebrate development and human diseases.The international journal of biochemistry & cell biology · 2014Review
- Grsf1-induced translation of the SNARE protein Use1 is required for expansion of the erythroid compartment.PloS one · 2014Article
- Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis.Haematologica · 2013Article
- Review
- Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II.Blood cells, molecules & diseases · 2013Article
- Identification of biologically relevant enhancers in human erythroid cells.The Journal of biological chemistry · 2013Article
- Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach.Haematologica · 2012Review
- SEC23B is required for the maintenance of murine professional secretory tissues.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
Corrections and comments
- Commented on by
Authors and funding
9 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundThe most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene. Here we established the molecular basis of 42 cases of congenital dyserythropoietic anemia type II and attempted to define a genotype-phenotype relationship. DESIGN AND
methodsSEC23B gene sequencing analysis was performed to assess the diversity and incidence of each mutation in 42 patients with congenital dyserythropoietic anemia type II (25 described exclusively in this work), from the Italian and the French Registries, and the relationship of these mutations with the clinical presentation. To this purpose, we divided the patients into two groups: (i) patients with two missense mutations and (ii) patients with one nonsense and one missense mutation.
resultsWe found 22 mutations of uneven frequency, including seven novel mutations. Compound heterozygosity for a missense and a nonsense mutation tended to produce a more severe clinical presentation, a lower reticulocyte count, a higher serum ferritin level, and, in some cases, more pronounced transfusion needs, than homozygosity or compound heterozygosity for two missense mutations. Homozygosity or compound heterozygosity for two nonsense mutations was never found.
conclusionsThis study allowed us to determine the most frequent mutations in patients with congenital dyserythropoietic anemia type II. Correlations between the mutations and various biological parameters suggested that the association of one missense mutation and one nonsense mutation was significantly more deleterious that the association of two missense mutations. However, there was an overlap between the two categories.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.