Jodi Morrison

TL;DR: Identification of disease-associated mutations in an uncharacterized gene, SBDS, in the interval of 1.9 cM at 7q11 is reported, suggesting that SDS may be caused by a deficiency in an aspect of RNA metabolism essential for development of the exocrine pancreas, hematopoiesis and chrondrogenesis.

TL;DR: Clinical features among patients with Shwachman syndrome varied between patients and with age, and similarities in phenotype between isolated cases and affected sibling sets support the hypothesis that Shwacman syndrome is a single disease entity.

TL;DR: Evidence from all 15 of the multiplex families analyzed provided support for the linkage, consistent with a single locus for SDS, however, the presence of several different mutations is suggested by the heterogeneity of disease-associated haplotypes in the candidate region.

TL;DR: The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age, and no phenotype–genotype correlation was observed.

TL;DR: Serum pancreatic enzymes are useful for determining the pancreatic phenotype and confirming the diagnosis of Shwachman-Diamond syndrome.