Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis.
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.
Verwest
A M
AM
Department of Pediatrics, Erasmus University and University Hospital/Sophia Childrens' Hospital Rotterdam, The Netherlands.
Poelman
M
M
Dinjens
W N
WN
Batstra
M R
MR
Oostra
B A
BA
Lequin
M H
MH
Larsson
L I
LI
Aanstoot
H J
HJ
Bruining
G J
GJ
de Krijger
R R
RR
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*
D053379:Chromogranin A; D002864:Chromogranins; D005755:Gastrins; D018398:Homeodomain Proteins; D016708:Synaptophysin; D015534:Trans-Activators; C084010:pancreatic and duodenal homeobox 1 protein; D012701:Serotonin