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Article

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

Clinical genetics - 1 Jun 2026

Aramaki Michihiko, Doi Hibiki, Kato-Fukui Yuko, Koga Nobuhiko, Kashimada Kenichi, Fukami Maki

Abstract excerpt

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...

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Identifiers

PMID: 41536248
DOI: 10.1111/cge.70134

Genes

PTF1A

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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