Compound Heterozygous Complete Loss-of-Function <i>SPINK1</i> Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency.

ABSTRACT:

Background/objectives

While complete loss-of-function (LoF) SPINK1 variants in the simple heterozygous state cause chronic pancreatitis, biallelic complete LoF variants result in a rare pediatric disorder termed severe infantile isolated exocrine pancreatic insufficiency (SIIEPI). To date, only two individuals with a null SPINK1 genotype have been reported-one homozygous for a whole-gene deletion and the other for an Alu insertion in the 3' untranslated region. Here, we report the genetic basis of a third SIIEPI case, presenting in early infancy with severe exocrine pancreatic insufficiency and diffuse pancreatic lipomatosis.

Methods

Targeted next-generation sequencing (NGS) was used to analyze the entire coding region and exon-intron boundaries of the <

SUBMITTER: Masson E 

PROVIDER: S-EPMC12469571 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature