Further evidence for the involvement of in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features.

Recent evidence has implicated in a phenotype overlapping Shwachman-Diamond syndrome (SDS), with the functional interplay between and the previously known causative gene accounting for the similarity in clinical features. Relatively little is known about the phenotypes associated with pathogenic variants in the gene, but the initial indication was that phenotypes may be more severe, when compared with SDS. We report a pediatric patient who presented with a metaphyseal dysplasia and was found to have biallelic variants in on reanalysis of trio whole-exome sequencing data. The variant had not been initially reported because of the research laboratory's focus on de novo variants. Subsequent phenotyping revealed variability in her manifestations. Although her metaphyseal abnormalities were more severe than in the original reported cohort with variants, the bone marrow abnormalities were generally mild, and there was equivocal evidence for pancreatic insufficiency. Despite the limited number of reported patients, variants in appear to cause a broader spectrum of symptoms that overlap with those seen in SDS. Our report adds to the evidence of being associated with an SDS-like phenotype and provides information adding to our understanding of the phenotypic variability of this disorder. Our report also highlights the value of exome data reanalysis when a diagnosis is not initially apparent.