Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with Shwachman-Diamond Syndrome carrying biallelic SBDS mutations

Br J Haematol. 2019 May;185(3):627-630. doi: 10.1111/bjh.15594. Epub 2018 Sep 10.

Authors

Affiliations

¹ Department of Physics, University of Pavia, Pavia, Italy.
² Department of Molecular Medicine, University of Pavia, Pavia, Italy.
³ Oncoematologia Pediatrica, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
⁴ Department of Medicine and Surgery, University of Insubria, Varese, Italy.
⁵ Laboratory of Transfusion Medicine, University Hospital of Verona, Verona, Italy.
⁶ Cystic Fibrosis Regional Centre Ospedali Riuniti, Ancona, Italy.

PMID: 30198570
DOI: 10.1111/bjh.15594

No abstract available

Keywords: Shwachman-Diamond syndrome; bone marrow diseases; computational biology; single nucleotide polymorphisms; whole exome sequencing.

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Alleles*
Exome Sequencing*
Female
HSP40 Heat-Shock Proteins / genetics*
Heterozygote*
Humans
Male
Mutation*
Peptide Elongation Factors / genetics*
Ribonucleoprotein, U5 Small Nuclear / genetics*
Shwachman-Diamond Syndrome / genetics*
Signal Recognition Particle / genetics*

Substances

DNAJC21 protein, human
EFL1 protein, human
HSP40 Heat-Shock Proteins
Peptide Elongation Factors
Ribonucleoprotein, U5 Small Nuclear
SRP54 protein, human
Signal Recognition Particle