Investigation of a novel PROS1 splicing variant in a patient with protein S deficiency

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 spl...

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Bibliographic Details
Published inHuman genome variation Vol. 11; no. 1; pp. 28 - 4
Main Authors Niida, Yo, Fujita, Wataru, Togi, Sumihito, Ura, Hiroki
Format Journal Article
LanguageEnglish
Published London Springer Nature B.V 26.07.2024
Nature Publishing Group
Subjects
Amino acids
Antigens
Congenital diseases
DNA sequencing
Genetic counseling
Genetic testing
Genomes
mRNA
Protein deficiency
Protein S
Proteins
Pulmonary arteries
Pulmonary embolisms
Splicing
Thrombosis
Veins & arteries
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Summary: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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ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-024-00286-9