Autosomal dominant Shwachman-Diamond syndrome with a novel heterozygous missense variant in the SRP54 gene causing severe phenotypic features

Br J Haematol. 2022 Feb;196(3):e39-e42. doi: 10.1111/bjh.17853. Epub 2021 Sep 22.

Authors

Peter McCarthy^{1

2}, Melanie Cotter¹, Owen P Smith^{1

2}

Affiliations

¹ National Children's Cancer Service, Children's Health Ireland at Crumlin, Dublin, Ireland.
² Systems Biology Ireland, School of Medicine, University College Dublin, Dublin, Ireland.

PMID: 34549814
DOI: 10.1111/bjh.17853

No abstract available

Keywords: SRP54 gene; autosomal dominant Shwachman Diamond syndrome; novel heterozygous missense variant.

Publication types

Case Reports
Letter

MeSH terms

Biomarkers
Biopsy
DNA Mutational Analysis
Disease Management
Genetic Association Studies
Genetic Predisposition to Disease
Hematopoietic Stem Cell Transplantation / adverse effects
Hematopoietic Stem Cell Transplantation / methods
Heterozygote*
Humans
Infant, Newborn
Male
Mutation, Missense*
Phenotype*
Radiography
Shwachman-Diamond Syndrome / diagnosis*
Shwachman-Diamond Syndrome / genetics*
Signal Recognition Particle / genetics*
Treatment Outcome

Substances

Biomarkers
SRP54 protein, human
Signal Recognition Particle