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

Yo Niida; Wataru Fujita; Sumihito Togi; Hiroki Ura

doi:10.1038/s41439-024-00286-9

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

Hum Genome Var. 2024 Jul 26;11(1):28. doi: 10.1038/s41439-024-00286-9.

Authors

Yo Niida^{1

2}, Wataru Fujita³, Sumihito Togi^{4

5}, Hiroki Ura^{4

5}

Affiliations

¹ Center for Clinical Genomics, Kanazawa Medical University Hospital, Ishikawa, Uchinada, Japan. niida@kanazawa-med.ac.jp.
² Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Uchinada, Japan. niida@kanazawa-med.ac.jp.
³ Department of Cardiology, Kanazawa Medical University, Ishikawa, Uchinada, Japan.
⁴ Center for Clinical Genomics, Kanazawa Medical University Hospital, Ishikawa, Uchinada, Japan.
⁵ Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University, Ishikawa, Uchinada, Japan.

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).

Abstract

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