Work

Shwachman–Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy

Year: 2024

Type: article

Study design: Case Report

Abstract: Shwachman-Diamond syndrome represents a clinically and genetically heterogeneous disorder. We report on an infant with a very severe, fatal clinical course caused by biallelic EFL1 variants: c.89A>G, p.(His30Arg), and c.2599A>G, p.(Asn867Asp). Functional analysis of patient-derived B-lymphoblastoid and SV40-transformed fibroblast cell lines suggests that the compound heterozygous EFL1 variants impaired mature ribosome formation leading to compromised protein synthesis, ultimately resulting in a severe form of Shwachman-Diamond syndrome.

Source: British Journal of Haematology

DOI: 10.1111/bjh.19793

Authors: Holger Cario, Alexis Bertrand, Shengjiang Tan, Bernd Auber, Miriam Erlacher, Eva‐Maria Mair, Sandra von Hardenberg, Dirk Lebrecht, Patrick Revy, Alan J. Warren

Institutions: Universität Ulm, University Hospital Ulm, Inserm, Université Paris Cité, Université Paris-Saclay, Institut des Maladies Génétiques Imagine, Wellcome/MRC Cambridge Stem Cell Institute, University of Cambridge, Wellcome Trust, Medical Research Council, Medizinische Hochschule Hannover, University of Freiburg, University Medical Center Freiburg

Language: English

Topic: Blood disorders and treatments

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $4,940

Funders: Shwachman Diamond Syndrome Foundation, Cancer Research UK, Rosetrees Trust, Institut National de la Santé et de la Recherche Médicale, Ligue Contre le Cancer, Isaac Newton Trust, Blood Cancer UK, Medical Research Council

Awards: G1937524280, G3159964893, Molecular mechanisms of eukaryotic ribosome assembly, G7070136516

OpenAlex ID: W4403220372

FWCI: 0.964

Cites: 16

Cited by: 4

Related to: 10