Clinical and Laboratory ObservationsA Novel Mutation in a Fijian Boy With Shwachman-Diamond SyndromeNewman, Aimee R. MD; Moghaddam, Billur MD; Yoon, Janet M. MDAuthor Information Department of Pediatrics, University of California, Davis Medical Center, Sacramento, CA Reprints: Janet M. Yoon, MD, Department of Pediatrics, Davis Medical Center, University of California, 2516 Stockton Blvd, Sacramento, CA (e-mail: email@example.com). Received for publication March 25, 2009; accepted July 27, 2009 Journal of Pediatric Hematology/Oncology: November 2009 - Volume 31 - Issue 11 - p 847-849 doi: 10.1097/MPH.0b013e3181b9c949 Buy Metrics 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. © 2009 Lippincott Williams & Wilkins, Inc.