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

Aart M. Verwest; Marnix Poelman; Winand N.M. Dinjens; Manou R. Batstra; Ben A. Oostra; Maarten H. Lequin; Lars Inge Larsson; Henk Jan Aanstoot; G. Jan Bruining; Ronald R. De Krijger

doi:10.1007/s004280000305

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

Aart M. Verwest, Marnix Poelman, Winand N.M. Dinjens, Manou R. Batstra, Ben A. Oostra, Maarten H. Lequin, Lars Inge Larsson, Henk Jan Aanstoot, G. Jan Bruining, Ronald R. De Krijger

Research output: Contribution to journal › Article › peer-review

20 Citations (Scopus)

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-yearold 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.

Original language	English
Pages (from-to)	680-684
Number of pages	5
Journal	Virchows Archiv
Volume	437
Issue number	6
DOIs	https://doi.org/10.1007/s004280000305
Publication status	Published - 2000
Externally published	Yes

Keywords

Agenesis
Immunohistochemistry
Mutation analysis
Pancreas
PDX-1

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10.1007/s004280000305

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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-yearold 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.",

keywords = "Agenesis, Immunohistochemistry, Mutation analysis, Pancreas, PDX-1",

author = "Verwest, {Aart M.} and Marnix Poelman and Dinjens, {Winand N.M.} and Batstra, {Manou R.} and Oostra, {Ben A.} and Lequin, {Maarten H.} and Larsson, {Lars Inge} and Aanstoot, {Henk Jan} and Bruining, {G. Jan} and {De Krijger}, {Ronald R.}",

note = "Funding Information: Acknowledgements This work was supported by the Child Health and Wellbeing Fund. The authors would like to thank F. van der Ham for excellent technical support.",

year = "2000",

doi = "10.1007/s004280000305",

language = "English",

volume = "437",

pages = "680--684",

journal = "Virchows Archiv",

issn = "0945-6317",

publisher = "Springer Verlag",

number = "6",

}

TY - JOUR

T1 - Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in a child with pancreatic agenesis

AU - Verwest, Aart M.

AU - Poelman, Marnix

AU - Dinjens, Winand N.M.

AU - Batstra, Manou R.

AU - Oostra, Ben A.

AU - Lequin, Maarten H.

AU - Larsson, Lars Inge

AU - Aanstoot, Henk Jan

AU - Bruining, G. Jan

AU - De Krijger, Ronald R.

N1 - Funding Information: Acknowledgements This work was supported by the Child Health and Wellbeing Fund. The authors would like to thank F. van der Ham for excellent technical support.

PY - 2000

Y1 - 2000

N2 - 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-yearold 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.

AB - 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-yearold 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.

KW - Agenesis

KW - Immunohistochemistry

KW - Mutation analysis

KW - Pancreas

KW - PDX-1

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U2 - 10.1007/s004280000305

DO - 10.1007/s004280000305

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SN - 0945-6317

VL - 437

SP - 680

EP - 684

JO - Virchows Archiv

JF - Virchows Archiv

IS - 6

ER -

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

Abstract

Keywords

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