title: Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis.
abstract: Pancreatic agenesis is a rare condition, of which only a limited number of cases have been described. One recent paper reported a homozygous mutation in the pancreatic duodenal homeobox gene 1 (PDX-1) in a child with pancreatic agenesis. We report a 6-year-old boy with pancreatic agenesis, treated medically, without abnormalities in the PDX-1 gene coding sequence and with normal gastroduodenal endocrine cell distribution. Genes other than PDX-1 also appear to be involved in human pancreatic agenesis.
authors.affiliation: Department of Pediatrics, Erasmus University and University Hospital/Sophia Childrens' Hospital Rotterdam, The Netherlands.
authors.forename: A M
authors.initials: AM
authors.lastname: Verwest
authors.forename: M
authors.initials: M
authors.lastname: Poelman
authors.forename: W N
authors.initials: WN
authors.lastname: Dinjens
authors.forename: M R
authors.initials: MR
authors.lastname: Batstra
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: M H
authors.initials: MH
authors.lastname: Lequin
authors.forename: L I
authors.initials: LI
authors.lastname: Larsson
authors.forename: H J
authors.initials: HJ
authors.lastname: Aanstoot
authors.forename: G J
authors.initials: GJ
authors.lastname: Bruining
authors.forename: R R
authors.initials: RR
authors.lastname: de Krijger
mesh_terms: D001706:Biopsy; D002648:Child; D053379:Chromogranin A; D002864:Chromogranins / Q000032:analysis; D004386:Duodenum / Q000473:pathology*; D004702:Endocrine Glands / Q000737:chemistry / Q000473:pathology; D005755:Gastrins / Q000032:analysis; D018398:Homeodomain Proteins; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D009154:Mutation; D010179:Pancreas / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012701:Serotonin / Q000032:analysis; D013270:Stomach / Q000473:pathology*; D016708:Synaptophysin / Q000032:analysis; D014057:Tomography, X-Ray Computed; D015534:Trans-Activators / Q000032:analysis / Q000235:genetics*
chemical_list: D053379:Chromogranin A; D002864:Chromogranins; D005755:Gastrins; D018398:Homeodomain Proteins; D016708:Synaptophysin; D015534:Trans-Activators; C084010:pancreatic and duodenal homeobox 1 protein; D012701:Serotonin