Compound Heterozygosity of PTF1A Exonic and Enhancer Variants in a Japanese Boy With Pancreatic Hypoplasia

Clinical Genetics 2026

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Authors: Michihiko Aramaki, Hibiki Doi, Yuko Kato‐Fukui, Nobuhiko Koga, Kenichi Kashimada, Maki Fukami
DOI: 10.1111/cge.70134
Cited by: 0
References: 5

Abstract

A Japanese boy carried a paternally inherited single-nucleotide deletion in PTF1A exon 1 (c.775delC) and a maternally inherited nucleotide substitution in the distal enhancer region (g.23508356T>G). Both variants were hitherto unreported. The patient exhibited transient anemia in addition to typical clinical features of pancreatic hypoplasia, but no neurodevelopmental abnormalities. These results highlight the clinical importance and broad mutation spectrum of PTF1A variants as a cause of pancreatic hypoplasia. In addition, our data imply that phenotypes of PTF1A abnormalities are variable and include etiology-unknown transient anemia.

Fields of Study & Subjects

Pancreatic function and diabetes Pancreatitis Pathology and Treatment Genomics and Rare Diseases

Publication details

Journal / source
Clinical Genetics
Volume
109
Issue
6
Pages
1088–1089
Publication date
15 January 2026
Language
EN