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Shwachman-Diamond syndrome due to biallelic EFL1 variants with complex and fatal clinical course in early infancy
Holger Cario1,2, Alexis Bertrand3,4,5, Shengjiang Tan6,7,8
1Department of Pediatrics and Adolescent Medicine, University Medical Center Ulm, Ulm, Germany.
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.
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