Investigation of a Novel PROS1 Splicing Variant in a Patient with Protein S Deficiency

Overview

Journal Hum Genome Var

Date 2024 Jul 26

PMID 39060248

Authors

Yo Niida

Wataru Fujita

Sumihito Togi

Hiroki Ura

Affiliations

Soon will be listed here.

Abstract

Here, we report a novel PROS1 splicing mutation in a patient with type I protein S deficiency. Qualitative and quantitative analysis of pathogenic splicing variants at the mRNA level was performed by long-range PCR-based targeted DNA and RNA sequencing. A base substitution in the exon 4 splicing donor site activates a potential splicing donor site in intron 4, resulting in an in-frame insertion of 48 bases (16 amino acids).

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