Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy.
Year: 2024
Type: article
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: Apollo (University of Cambridge)
DOI: 10.17863/cam.112245
Authors: Cario, Holger, Bertrand, Alexis, Tan, Shengjiang, Auber, Bernd, Erlacher, Miriam, Mair, Eva-Maria, von Hardenberg, Sandra, Lebrecht, Dirk, Revy, Patrick, Warren, Alan J
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Funders: Shwachman Diamond Syndrome Foundation, Institut des maladies génétiques Imagine, Cancer Research UK, Rosetrees Trust, Institut National de la Santé et de la Recherche Médicale, Ligue Contre le Cancer, Centre National de la Recherche Scientifique, Isaac Newton Trust, Blood Cancer UK, Medical Research Council
OpenAlex ID: W6925442192
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