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

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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

Standort: Deutsche Nationalbibliothek Frankfurt am Main

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: British journal of haematology. - 205, 6 (2024) , 2363-2369, ISSN: 1365-2141

Ereignis: Veröffentlichung

(wo): Freiburg

(wer): Universität

(wann): 2024

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

DOI: 10.1111/bjh.19793

URN: urn:nbn:de:bsz:25-freidok-2587442

Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Letzte Aktualisierung: 15.08.2025, 07:33 MESZ

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Beteiligte

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

Entstanden

2024

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

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