{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Masson E"],"funding":["The Institut National de la Santé et de la Recherche Médicale (INSERM), the Association des Pancré-atites Chroniques Héréditaires, and the Association Gaétan Saleün, France."],"pagination":["998"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12469571"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(9)"],"pubmed_abstract":["<h4>Background/objectives</h4>While complete loss-of-function (LoF) <i>SPINK1</i> 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 <i>SPINK1</i> genotype have been reported-one homozygous for a whole-gene deletion and the other for an <i>Alu</i> 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.<h4>Methods</h4>Targeted next-generation sequencing (NGS) was used to analyze the entire coding region and exon-intron boundaries of the <"],"journal":["Genes"],"pubmed_title":["Compound Heterozygous Complete Loss-of-Function &lt;i&gt;SPINK1&lt;/i&gt; Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency."],"pmcid":["PMC12469571"],"funding_grant_id":["Not applicable"],"pubmed_authors":["Masson E","Wangermez M","Ferec C","Tougeron D","Rebours V","Chen JM"],"additional_accession":[]},"is_claimable":false,"name":"Compound Heterozygous Complete Loss-of-Function &lt;i&gt;SPINK1&lt;/i&gt; Variants as a Novel Cause of Severe Infantile Isolated Exocrine Pancreatic Insufficiency.","description":"<h4>Background/objectives</h4>While complete loss-of-function (LoF) <i>SPINK1</i> 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 <i>SPINK1</i> genotype have been reported-one homozygous for a whole-gene deletion and the other for an <i>Alu</i> 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.<h4>Methods</h4>Targeted next-generation sequencing (NGS) was used to analyze the entire coding region and exon-intron boundaries of the <","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-05-03T03:14:43.644Z","creation":"2026-05-03T03:11:00.297Z"},"accession":"S-EPMC12469571","cross_references":{"pubmed":["41009946"],"doi":["10.3390/genes16090998"]}}