Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in achild 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 pancreat ic agenesis. We report a 6-year-old boy with pancreatic agenesis, treated m edically, without abnormalities in the PDX-1 gene coding sequence and with normal gastroduodenal endocrine cell distribution. Genes other than PDX-1 a lso appear to be involved in human pancreatic agenesis.