GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II

Russo, Roberta; Andolfo, Immacolata; Gambale, Antonella; Rosa, Gianluca De; Manna, Francesco; Arillo, Alessandra; Wandroo, Farooq; Bisconte, Maria Grazia; Iolascon, Achille

doi:10.3324/haematol.2016.162966

Cited by 17 publications

(16 citation statements)

References 15 publications

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“…Similarly to other erythrocyte membrane defects, the great phenotypic variability of HSt is partially explained with the high genetic heterogeneity, since several new disease genes have been identified in the last few years . Additionally, it is by now known that a lot of Mendelian disorders could be explained with the combinations of multiple disease‐causing alleles, or their combination with polymorphic variants . The occurrence of complex genotypes could explain the difficulties in establishing the appropriate genotype/phenotype correlation.…”

Section: Diagnosis Of Hst: From Peripheral Blood Evaluation To Genetisupporting

confidence: 60%

Hereditary stomatocytosis: An underdiagnosed condition

et al. 2017

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Hereditary stomatocytoses are a wide class of hemolytic anemias characterized by alterations of ionic flux with increased cation permeability that results in inappropriate shrinkage or swelling of the erythrocytes, and water lost or gained osmotically. The last few years have been crucial for new acquisitions in this field in terms of identifying new causative genes and of studying their pathogenetic mechanisms. This review summarizes the main features of erythrocyte membrane transport diseases, dividing them into forms with either isolated erythroid phenotype (nonsyndromic) or extra-hematological manifestations (syndromic), and focusing particularly on the most recent advances regarding dehydrated forms of hereditary stomatocytosis and familial pseudohyperkalemia.

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Section: Diagnosis Of Hst: From Peripheral Blood Evaluation To Genetisupporting

confidence: 60%

Hereditary stomatocytosis: An underdiagnosed condition

et al. 2017

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“…One of the most important aspects of the use of custom gene panels in clinical practice is their ability to be easily upgradable in view of novel discoveries. This aspect is important not only for the chance to extend the diagnostic spectrum, as described in the present study, but also for the possibility to incorporate noncoding regulatory regions that may harbor pathogenic mutations, as described for GATA1 cis elements disrupted in human erythroid disorders …”

Section: Discussionmentioning

confidence: 93%

Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

et al. 2018

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Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively. Seventy-four probands from 62 unrelated families were investigated. Our study includes the most comprehensive gene set for these anemias and the largest cohort of patients described so far. We obtained an overall diagnostic yield of 64.9%. Despite 54.2% of cases showed conclusive diagnosis fitting well to the clinical suspicion, the multi-gene analysis modified the original clinical diagnosis in 45.8% of patients (nonmatched phenotype-genotype). Of note, 81.8% of nonmatched patients were clinically suspected to suffer from CDA. Particularly, 45.5% of the probands originally classified as CDA exhibited a conclusive diagnosis of chronic anemia due to enzymatic defects, mainly due to mutations in PKLR gene. Interestingly, we also identified a syndromic CDA patient with mild anemia and epilepsy, showing a homozygous mutation in CAD gene, recently associated to early infantile epileptic encephalopathy-50 and CDA-like anemia. Finally, we described a patient showing marked iron overload due to the coinheritance of PIEZO1 and SEC23B mutations, demonstrating that the multi-gene approach is valuable not only for achieving a correct and definitive diagnosis, but also for guiding treatment.

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“…18,19 Moreover, a CDA variant has been described: X-linked thrombocytopenia with dyserythropoietic anemia (XLTDA) (OMIM 300367) caused by variants in the GATA1 gene (chr: Xp11.23). [20][21][22][23] CDA types I and II are inherited in an autosomal recessive manner and, CDA types III and IV in an autosomal dominant manner.…”

Section: Introductionmentioning

confidence: 99%