What question did this study set out to answer?

To identify and characterize the genetic mutations in a boy with pancreatic hypoplasia.

January 17, 2026

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

MAMichihiko AramakiNational Center For Child Health and Development HDHibiki DoiNational Center For Child Health and Development YKYuko Kato‐FukuiNational Center For Child Health and Development

Key Points

To identify and characterize the genetic mutations in a boy with pancreatic hypoplasia.
Genetic analysis of PTF1A variants
Identification of a single-nucleotide deletion and a nucleotide substitution
Clinical assessment of anemia and pancreatic development
Identification of a c.775delC deletion in PTF1A exon 1
Discovery of a g.23508356T>G substitution in the PTF1A enhancer region
Patient exhibited pancreatic hypoplasia and transient anemia without neurodevelopmental abnormalities

Abstract

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.

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