Novel Compound Heterozygous TMPRSS15 Gene Variants Cause Enterokinase Deficiency.

ABSTRACT:

Background

Enterokinase deficiency (EKD) is a rare autosomal recessively inherited disorder mainly characterized by diarrhea, hypoproteinemia and failure to thrive in infancy. Loss-of-function variants in the TMPRSS15 gene cause EKD.

Methods

We report the clinical manifestations and molecular basis of EKD in a Chinese child. We investigated in vitro two TMPRSS15 variants: the c.1921G > A as a possible splicing variant by minigene assay; the c.2396T > A(p.Val799Asp) as a missense change by protein expression analysis, enterokinase activity and effect on cellular localization.

Results

The proband presented with intractable diarrhea accompanied by vomiting, failure to thrive and hypoproteinemia in his second year. Genetic analysis showed that the pat

SUBMITTER: Wang L 

PROVIDER: S-EPMC7517701 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature