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

被引：0

作者：

Niida, Yo ^{[1
,2
]}

Fujita, Wataru ^{[3
]}

Togi, Sumihito ^{[1
,2
]}

Ura, Hiroki ^{[1
,2
]}

机构：

[1] Kanazawa Med Univ Hosp, Ctr Clin Genom, Uchinada, Ishikawa, Japan

[2] Kanazawa Med Univ, Med Res Inst, Dept Adv Med, Div Genom Med, Uchinada, Ishikawa, Japan

[3] Kanazawa Med Univ, Dept Cardiol, Uchinada, Ishikawa, Japan

来源：

HUMAN GENOME VARIATION | 2024年 / 11卷 / 01期

关键词：

MUTATION; GENE; OPTIMIZATION; GENOMICS; FAMILY;

D O I：

10.1038/s41439-024-00286-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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).

引用

页数：4

共 20 条

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