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February 22, 2026Annals of HematologyOpen Access

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran

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Authors

EHElaheh HasaniMNMaryam NaghinejadMKMoein Kohkalani

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Overview

Case study reveals a pathogenic deletion in SLC25A38 affecting mitochondrial function in a child, suggesting new diagnostic insights.

Key Points

  • To investigate the role of a novel frameshift deletion in the SLC25A38 gene associated with mitochondrial dysfunction in a child with sideroblastic anemia.
  • Conducted clinical and genetic evaluation of a family with a child diagnosed with pyridoxine-refractory sideroblastic anemia.
  • Performed whole exome sequencing on the patient to identify genetic variations.
  • Utilized Sanger sequencing on the patient’s parents and additional family members for segregation analysis.
  • Conducted molecular docking studies to examine the protein structure of SLC25A38 pre- and post-variant.
  • Identified a pathogenic c.482_485del (p. Ile161ThrfsTer4) variant in the SLC25A38 gene present as homozygotes in the proband and heterozygotes in the parents.
  • Observed decreased binding and stability of the mutant SLC25A38 protein compared to the wild type.
  • Reclassified the SLC25A38 variant from likely pathogenic to pathogenic, aiding in clinical decision-making.

Cite This Study

Hasani et al. (2026) studied this question.

synapsesocial.com/papers/699a9cc6482488d673cd2751https://doi.org/10.1007/s00277-026-06899-0
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1A Novel SLC25A4 Variant Causing Mitochondrial Dysfunction, Myopathy and Cardiomyopathy: A Functional and Molecular Characterization2026
  2. 2Impaired Mitochondrial Function and Marrow Failure in Patients Carrying a Variant of the SRSF4 Gene2024
  3. 3Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia2024
  4. 4A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia2024
  5. 5De novo hemizygous P.Arg204Leu mutation in ALAS2 Gene in young Indian male with X-linked sideroblastic anemia: A case report2024