METHODS
Patients with a diagnosis of CSA or an aregenerative congenital anemia were referred for research testing to M.D.F., M.M.H, or S.S.B., as a part of human subjects research protocols approved at Boston Children’s Hospital and the University of Oklahoma. All subjects or their guardians provided written informed consent to participate in the study. The patients described here are a subset of 251 CSA probands referred to M.D.F., M.M.H., and S.S.B., which, in addition to the 24 families described here, includes 12 families described in the initial report of the SLC25A38 anemia. Most mutations were discovered by research Sanger sequencing of SLC25A38 exons. Several were identified by commercial inherited anemia NextGen sequencing panels. In most cases, mutations were proven to be biallelic based on sequencing of parental and/or sibling DNA samples.
Mutational and splicing analysis was performed with Alamut Visual (Sophia Genetics). Protein alignment and conservation analysis was performed using the Clustal Omega (https://www.ebi.ac.uk/Tools/msa/clustalo/) set of multiple sequence alignment tools and the sequences described in Supplementary Tables 1 and 2. Statistical analysis was performed with Prism 9 for macOS (GraphPad Software, LLC).
SLC25A38 CSA patients described in the literature accessible through PubMed and available online are reviewed and are current as of January 25, 2021.