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Article

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

Journal of clinical research in pediatric endocrinology - 1 Sept 2017

Gabbay Monica, Ellard Sian, De Franco Elisa, Moisés Regina S

Abstract excerpt

Neonatal diabetes, defined as the onset of diabetes within the first six months of life, is very rarely caused by pancreatic agenesis. Homozygous truncating mutations in the PTF1A gene, which encodes a transcriptional factor, have been reported in patients with pancreatic and cerebellar agenesis, whilst mutations located in a distal pancreatic-specific enhancer cause isolated pancreatic agenesis. We report an...

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Source

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Identifiers

PMID: 28663161
DOI: 10.4274/jcrpe.4494
PMCID: PMC5596810

Genes

ABCC8
INS
KCNJ11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

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Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene.PMID 28663161Read ↗

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

Mutations in PTF1A cause pancreatic and cerebellar agenesis.Semantic proximity Read ↗

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