⌘+K

Pulse Explore Communities Researchers Journals

Home Communities Explore

February 19, 2026British Journal of Haematology

Expanding the phenotypic spectrum of DNAJC21 ‐associated bone marrow failure syndrome: A single‐centre experience

Akshay Deshpande Rohit Mathur Mark Velangi Alice Norton A. Cherungonath Sarah Lawson Samantha Hughes

View at Publisher

Ask AI

Bookmark

Share

Key Points

The study aims to broaden the knowledge of the various phenotypes related to DNAJC21-associated bone marrow failure syndrome.
Conducted a retrospective analysis of patient cases
Assessed clinical features and genetic testing results
Reviewed historical medical records for phenotype characterization
Identified new phenotypic presentations in patients with DNAJC21 mutations
Demonstrated variability in symptoms and severity among patients
Contributed to a better understanding of the diverse effects of DNAJC21 mutations

No abstract yet

We only have this paper's title and publication details.

Read it at the source→

Implication

Single-center experience expands understanding of bone marrow failure syndrome linked to DNAJC21 mutations, highlighting new implications.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Deshpande et al. (2026) studied this question.

synapsesocial.com/papers/699a9d65482488d673cd344d https://doi.org/10.1111/bjh.70372

View at Publisher

Ask AI

Bookmark

Share

Keep reading

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

1Refining the phenotype associated with biallelic <i>DNAJC21</i> mutationsOriginal Research · 2018 · 46 citations
2Loss of Dnajc21 leads to cytopenia and altered nucleotide metabolism in zebrafish2024 · 7 citations
3<scp>AML</scp> , Myelodysplasia‐Related With B/Myeloid <scp>MPAL</scp> Immunophenotype, Normal Karyotype, and <scp>SRSF2</scp> / <scp>ASXL1</scp> / <scp>FLT3</scp> Co‐MutationsOriginal Research · 2026
4Exceptional Clonal Activation of the <scp>RAS</scp> Signaling Pathway During <scp>MDS</scp> ProgressionOriginal Research · 2026
5Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndromeOriginal Research · 2017 · 147 citations

More related papers

Identification and characterization of two novel <scp>JK</scp> alleles in a self‐identified black donor2026
Novel Homozygous Pathogenic Variant in <scp> <i>DNAJC6</i> </scp> Causes Rapid Progressive Parkinsonism2026
Germline variant database and visualization platform for BMF and hematologic malignancy predisposition syndromes: BMFgenes1.02025

More from British Journal of Haematology

CAR ‐ HEMATOTOX score to predict risk of poor outcomes with odronextamab in heavily pretreated B‐cell non‐Hodgkin lymphomaWed,
Patient‐specific genomic measurable residual disease markers for monitoring acute myeloid leukaemia and myeloid malignancyTue,