Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis

A M Verwest; M Poelman; W N Dinjens; M R Batstra; B A Oostra; M H Lequin; L I Larsson; H J Aanstoot; G J Bruining; R R de Krijger

doi:10.1007/s004280000305

Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis

Virchows Arch. 2000 Dec;437(6):680-4. doi: 10.1007/s004280000305.

Authors

A M Verwest¹, M Poelman, W N Dinjens, M R Batstra, B A Oostra, M H Lequin, L I Larsson, H J Aanstoot, G J Bruining, R R de Krijger

Affiliation

¹ Department of Pediatrics, Erasmus University and University Hospital/Sophia Childrens' Hospital Rotterdam, The Netherlands.

PMID: 11193482
DOI: 10.1007/s004280000305

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.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Biopsy
Child
Chromogranin A
Chromogranins / analysis
Duodenum / pathology*
Endocrine Glands / chemistry
Endocrine Glands / pathology
Gastrins / analysis
Homeodomain Proteins*
Humans
Immunohistochemistry
Male
Mutation*
Pancreas / abnormalities*
Pancreas / diagnostic imaging
Serotonin / analysis
Stomach / pathology*
Synaptophysin / analysis
Tomography, X-Ray Computed
Trans-Activators / analysis
Trans-Activators / genetics*

Substances

Chromogranin A
Chromogranins
Gastrins
Homeodomain Proteins
Synaptophysin
Trans-Activators
pancreatic and duodenal homeobox 1 protein
Serotonin