# A Novel Splice Donor Site Mutation Leading to Inherited Type I Protein S Deficiency

## TL;DR

A new mutation in the PROS1 gene causes inherited Protein S deficiency, a blood clotting disorder passed down in families.

## Contribution

A novel splice donor site mutation in the PROS1 gene is identified as the cause of inherited type I Protein S deficiency.

## Key findings

- A splice donor site mutation in intron 13 of the PROS1 gene leads to a frameshift mutation.
- The mutation results in premature termination at amino acid +551, contributing to Protein S deficiency.

## Abstract

Inherited Protein S (PS) deficiency is an autosomal dominant thrombotic disorder. We encountered a case of inherited type I PS deficiency following a close examination for recurrent pregnancy loss and identified the mutation responsible; a novel splice donor site mutation in intron 13 of the PROS1 gene appeared to have caused a frameshift with premature termination at amino acid +551. These results will contribute to the creation of an accurate database and define the molecular basis for PS deficiency.