The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data

Pediatr Blood Cancer. 2017 Nov;64(11). doi: 10.1002/pbc.26630. Epub 2017 May 16.

Abstract

This study presents the clinical phenotype and molecular analysis findings from 11 patients recorded in the Greek Shwachman-Diamond syndrome (SDS) Registry. The most severely affected patient in our registry was diagnosed at birth and is the first patient reported to require bone marrow transplantation so early in life. Severe psoriasis, a feature not previously reported in SDS, was observed in one patient. Mutations in the Shwachman-Bodian-Diamond syndrome gene (SBDS) were found in all patients. Cytogenetic analyses revealed clonal abnormalities, one novel, in two patients.

Keywords: Greek; Shwachman-Diamond syndrome; psoriasis; registry; transplantation.

MeSH terms

  • Adolescent
  • Bone Marrow Diseases / genetics*
  • Bone Marrow Diseases / pathology*
  • Child, Preschool
  • Exocrine Pancreatic Insufficiency / genetics*
  • Exocrine Pancreatic Insufficiency / pathology*
  • Female
  • Greece
  • Humans
  • Infant
  • Lipomatosis / genetics*
  • Lipomatosis / pathology*
  • Male
  • Mutation / genetics*
  • Phenotype
  • Prognosis
  • Proteins / genetics*
  • Registries / statistics & numerical data*
  • Shwachman-Diamond Syndrome

Substances

  • Proteins
  • SBDS protein, human

Supplementary concepts

  • Shwachman syndrome