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.