Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations

Kedar, Prabhakar; Parmar, Vaishali; Devendra, Rati; Gupta, Vinod; Warang, Prashant; Madkaikar, Manisha

doi:10.1007/s00277-017-3116-5

Cited by 9 publications

(9 citation statements)

References 16 publications

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“…30µLof this diluted sample was incubated with the titrated volume of anti-CD44 antibody (BD Biosciences) in the dark at room temperature for 20 min. CD44 labelled RBCs were then washed with Phosphate Buffer Saline (PBS) and resuspended in 300 µL of PBS and used for analysis on BD FACSAria™ Fusion Flow Cytometer, and results were expressed in MCF as described earlier [9].…”

Section: Cd44 Antibody Binding Assaymentioning

confidence: 99%

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High-Resolution Melting Curve Analysis as a Tool for Detection of SEC23B Gene Mutation Causing Congenital Dyserythropoietic Anemia Type II in Indian population

Saptarshi

Dongerdiye

et al. 2022

Preprint

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Background: Congenital dyserythropoietic anemias (CDAs) are a very rare and heterogeneous group of disorders characterized by ineffective erythropoiesis. CDA II is caused by mutations in the SEC23B gene. The most common mutation reported in India is c.1385A>G, p.Y462C. There is no simple and cost-effective confirmatory diagnostic test available for CDA, and therefore, many patients remain undiagnosed. High-resolution melting (HRM) analysis is a polymerase chain reaction (PCR) based technique applied to identify genetic differences and scan nucleic acid sequences. HRM can be used to rapidly screen the common mutation causing CDA II in the Indian population. Objective: To study the use of High-Resolution Melting Curve Analysis to detect common mutation causing CDA II in the Indian population.Method:10 Indian families havingSEC23B (Y462C) mutation causing CDA II are considered for this study. HRM was used to check the presence of Y462C mutation. To verify the reliability of the HRM analysis, we compared results with the results of Sanger sequencing. This helped us to confirm the diagnosis.Results: We have described clinical, hematological, and genetic data of ten patients suffering from CDAII. According to HRM and Sanger sequencing, a homozygous SEC23B (Y462C) mutation was present in all patients, whereas a heterozygous Y462C mutation was present in their parents. Conclusion: Our data showed that High-Resolution Melting (HRM) analysis could be used to rapidly screen common SEC23B mutations that cause CDA II in the Indian population.HRM technique leads to an accurate diagnosis of CDA II patients and does not need further diagnostic workup.

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Section: Cd44 Antibody Binding Assaymentioning

confidence: 99%

“…But, the data is not available because of di culties in diagnosis. Biochemical methods like the anti-CD44 antibody binding test, along with bone marrow microscopy and molecular tests, will be helpful [9][10].…”

Section: Introductionmentioning

confidence: 99%

High-Resolution Melting Curve Analysis as a Tool for Detection of SEC23B Gene Mutation Causing Congenital Dyserythropoietic Anemia Type II in Indian population

Saptarshi

Dongerdiye

et al. 2022

Preprint

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“…The IDH1 gene normally encodes NADPH-dependent enzyme that catalyze the conversion of isocitrate to αKG. IDH1 mut reduces αKG to the oncometabolite D2HG, causing its accumulation 3,9,10. Biochemical studies have shown that D2HG production can potentially affect epigenetic regulation and cell differentiation through inhibition of both histone and DNA demethylation.11…”

Section: Diagnosis and Epidemiology Of Idh1mut Amlmentioning

confidence: 99%

<p>IDH1-mutated relapsed or refractory AML: current challenges and future prospects</p>

Megías‐Vericat¹,

Ballesta-López²,

Barragán³

et al. 2019

BLCTT

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The prognosis of patients with relapsed or refractory acute myeloid leukemia (R/R AML) is discouraging with salvage standard approaches. Mutations of isocitrate dehydrogenase 1 (IDH1 mut ), present in 7–14% of AML patients, have been discovered recently, opening the door to targeted agents aiming to improve the outcomes in this setting. Several oral selective IDH1 mut inhibitors are under investigation, ivosidenib being the first approved for R/R AML. We performed a systematic review to analyze the clinical outcomes and safety reported with IDH1 mut inhibitors and other agents in adult patients with IDH1 mut R/R AML. Ivosidenib in monotherapy achieved complete remission (CR) of 24%, overall response of 42%, and median overall survival of 9 months in R/R AML, and promising outcomes were reported with IDH305 and FT-2102. IDH1 mut inhibitors were generally well tolerated, but some therapy-related toxicities should be monitored, including IDH-differentiation syndrome, prolongation of the QT interval, and leukocytosis, all manageable and reversible. Also, venetoclax, CB-839, PARP inhibitors, and IDH1 peptide vaccine are being studied in IDH1 mut AML. The results of the ongoing and upcoming clinical trials will bring new evidence to establish the role of IDH1 mut inhibitors in therapeutic strategies of AML.

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“…Biochemical methods such as Eosin-5’-Maleimide assay (EMA) followed by an anti-CD44 antibody binding test, along with bone marrow microscopy and molecular tests, are found to be helpful for the diagnosis [ 10 ]. The Eosin-5’-Maleimide assay (EMA) is used for the diagnosis of red cell membrane protein defects.…”

Section: Introductionmentioning

confidence: 99%

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

Saptarshi

Dongerdiye

et al. 2023

Ital J Pediatr

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Background Congenital dyserythropoietic anemias (CDAs) are a very rare and heterogeneous group of disorders characterized by ineffective erythropoiesis. CDA II is caused by mutations in the SEC23B gene. The most common mutation reported in India is c.1385 A > G, p.Y462C. There is no simple and cost-effective confirmatory diagnostic test available for CDA, and therefore, many patients remain undiagnosed. High-resolution melting curve (HRM) analysis is a polymerase chain reaction (PCR) based technique applied to identify genetic differences and scan nucleic acid sequences. HRM can be used to rapidly screen the common mutation causing CDA II in the Indian population. Thus, we studied the use of High-Resolution Melting Curve Analysis to detect common mutation causing CDA II in the Indian population. Method 11 patients having SEC23B (Y462C) mutation causing CDA II are considered for this study. HRM was used to check the presence of Y462C mutation. To verify the accuracy of the HRM analysis, we compared HRM results with the results of Sanger sequencing. This helped us to confirm the diagnosis. Results We have described the clinical, hematological, and genetic data of eleven patients suffering from CDAII. According to HRM and Sanger sequencing, a homozygous SEC23B (Y462C) mutation was present in all patients, whereas a heterozygous Y462C mutation was present in their parents. Conclusion Our data showed that High-Resolution Melting (HRM) analysis could be used to rapidly screen common SEC23B mutation that causes CDA II in the Indian population.

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Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations

Cited by 9 publications

References 16 publications

High-Resolution Melting Curve Analysis as a Tool for Detection of SEC23B Gene Mutation Causing Congenital Dyserythropoietic Anemia Type II in Indian population

High-Resolution Melting Curve Analysis as a Tool for Detection of SEC23B Gene Mutation Causing Congenital Dyserythropoietic Anemia Type II in Indian population

<p>IDH1-mutated relapsed or refractory AML: current challenges and future prospects</p>

Development of High-Resolution Melting Curve Analysis for rapid detection of SEC23B gene mutation causing Congenital Dyserythropoietic Anemia type II in Indian population

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