FAM111B Mutation Is Associated With Inherited Exocrine Pancreatic Dysfunction.

ABSTRACT:

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 delet

SUBMITTER: Seo A 

PROVIDER: S-EPMC4841754 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature