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Updated: Mar 31, 2026

Oncogene Expression Analysis with Alterations in pH in a Pancreatic Ductal Cell Line
Published on: April 11, 2025
FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction
Aaron Seo1, Tom Walsh, Ming K Lee
1From the *Department of Genome Sciences, University of Washington; †Clinical Research Division, Fred Hutchinson Cancer Research Center; ‡Division of Medical Genetics, University of Washington; §Pediatric Hematology/Oncology, Seattle Children's Hospital; ∥Department of Pediatrics, University of Washington; ¶Pediatric Gastroenterology and Hepatology, and #Department of Dermatology, Seattle Children's Hospital, Seattle, WA; and **Boston Children's Hospital, Dana Farber Cancer Institute, and Harvard Medical School, Boston, MA.
Objectives:
Few genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extremities. The transmission pattern of these clinical features was consistent with an autosomal dominant mode of inheritance. The 2 proband siblings also had transient elevated liver transaminases with hepatic steatosis early in life. This study identifies the genetic cause of exocrine pancreatic dysfunction in this family.
Methods:
Whole exome sequencing was performed to identify the genetic cause of exocrine pancreatic dysfunction.
Results:
A heterozygous germline in-frame deletion in the gene FAM111B (c.1261_1263delAAG, p.Lys421del) cosegregated with the phenotype: the variant was present in all affected relatives genotyped and absent in all unaffected relatives genotyped. The variant is also absent from public control sequence databases.
Conclusions:
Our findings implicate FAM111B in autosomal dominantly inheritable exocrine pancreatic dysfunction.
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