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Mutations in PTF1A cause pancreatic and cerebellar agenesis.

Nature genetics - 1 Dec 2004

Sellick Gabrielle S, Barker Karen T, Stolte-Dijkstra Irene, Fleischmann Christina, Coleman Richard J, Garrett Christine, Gloyn Anna L, Edghill Emma L, Hattersley Andrew T, Wellauer Peter K, Goodwin Graham, Houlston Richard S

Abstract excerpt

Individuals with permanent neonatal diabetes mellitus usually present within the first three months of life and require insulin treatment. We recently identified a locus on chromosome 10p13-p12.1 involved in permanent neonatal diabetes mellitus associated with pancreatic and cerebellar agenesis in a genome-wide linkage search of a consanguineous Pakistani family. Here we report the further linkage analysis of...

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PMID: 15543146
DOI: 10.1038/ng1475

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mutations in PTF1A cause pancreatic and cerebellar agenesis.PMID 15543146Read ↗

Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation.Semantic proximity Read ↗

Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.Semantic proximity Read ↗

Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations.Semantic proximity Read ↗

Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster.Semantic proximity Read ↗

Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation.Semantic proximity Read ↗

Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis.Semantic proximity Read ↗

A novel PTF1A mutation in a patient with severe pancreatic and cerebellar involvement.Semantic proximity Read ↗

Neonatal and Late-Onset Diabetes Mellitus Caused by Failure of Pancreatic Development: Report of 4 More Cases and a Review of the LiteratureSemantic proximity Read ↗

A Novel Hypomorphic PDX1 Mutation Responsible for Permanent Neonatal Diabetes With Subclinical Exocrine DeficiencySemantic proximity Read ↗

Reduction of <i>Ptf1a</i> Gene Dosage Causes Pancreatic Hypoplasia and Diabetes in MiceSemantic proximity Read ↗

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological DevelopmentSemantic proximity Read ↗

Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia.Semantic proximity Read ↗

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