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

We reviewed our data on whole exome sequencing (WES) of 16 Italian patients with biallelic SBDS mutations, identi- fied by their Unique Patient Number (UPN) and we found two cases carrying heterozygous single nucleotide polymorphisms (SNPs) in DNAJC21 (UPN57 and UPN64) and five cases carrying three heterozygous SNPs in EFL1 (UPN6, UPN15, UPN57, UPN62, UPN68) (Table I). We did not find any variants in SRP54. All variants were confirmed by Sanger sequencing and were demonstrated to be inherited