First report of inherited protein S deficiency caused by paternal PROS1 mosaicism

Satomi Nagaya; Keiko Maruyama; Atsushi Watanabe; Makiko Meguro-Horike; Yuta Imai; Yuki Hiroshima; Shin-Ichi Horike; Koichi Kokame; Eriko Morishita

doi:10.3324/haematol.2021.278527

First report of inherited protein S deficiency caused by paternal PROS1 mosaicism

Haematologica. 2022 Jan 1;107(1):330-333. doi: 10.3324/haematol.2021.278527.

Authors

Satomi Nagaya¹, Keiko Maruyama², Atsushi Watanabe³, Makiko Meguro-Horike⁴, Yuta Imai¹, Yuki Hiroshima⁵, Shin-Ichi Horike⁴, Koichi Kokame², Eriko Morishita⁶

Affiliations

¹ Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, Kanazawa, Ishikawa.
² Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Suita, Osaka.
³ Division of Clinical Genetics, Kanazawa University Hospital, Kanazawa, Ishikawa.
⁴ Advanced Science Research Center, Kanazawa University, Kanazawa, Ishikawa.
⁵ Department of Hematology, Nagano Red Cross Hospital, Nagano, Nagano.
⁶ Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, Kanazawa, Ishikawa, Japan; Department of Hematology, Kanazawa University Hospital, Kanazawa, Ishikawa. eriko86@staff.kanazawa-u.ac.jp.

No abstract available

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Humans
Mosaicism
Pedigree
Protein S / genetics
Protein S Deficiency* / diagnosis
Protein S Deficiency* / genetics
Thrombophilia*

Substances

PROS1 protein, human
Protein S

Grants and funding

Funding: this work was partially supported by Grants-in-Aid from the Ministry of Health, Labour and Welfare of Japan to EM (grant number 20FC0201) and KK (grant number 20FC1024).