title: A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
abstract: Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow dysfunction, and metaphyseal chondrodysplasia. SDS is associated with mutations in the Shwachman-Bodian-Diamond Syndrome gene, with 90% of reported mutations in exon 2. We present a Fijian boy with SDS who has a novel A>G substitution in exon 1 of the Shwachman-Bodian-Diamond Syndrome gene that has not been reported in the literature. This patient's unique clinical course includes the presence of a cleft lip and episodic hypoglycemia. SDS lacks a clear genotype-phenotype correlation, as is showed by the heterogeneity in its clinical presentation.
authors.affiliation: Department of Pediatrics, University of California, Davis Medical Center, Sacramento, CA, USA.
authors.forename: Aimee R
authors.initials: AR
authors.lastname: Newman
authors.forename: Billur
authors.initials: B
authors.lastname: Moghaddam
authors.forename: Janet M
authors.initials: JM
authors.lastname: Yoon
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005367:Fiji; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D011506:Proteins / Q000235:genetics*
chemical_list: D011506:Proteins; C470521:SBDS protein, human