Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Author:

Tesi Bianca1234,Davidsson Josef56,Voss Matthias1,Rahikkala Elisa78,Holmes Tim D.19,Chiang Samuel C. C.1,Komulainen-Ebrahim Jonna710,Gorcenco Sorina11,Rundberg Nilsson Alexandra5,Ripperger Tim12,Kokkonen Hannaleena13,Bryder David5,Fioretos Thoas14,Henter Jan-Inge2,Möttönen Merja710,Niinimäki Riitta710,Nilsson Lars15,Pronk Cornelis Jan56,Puschmann Andreas11,Qian Hong1,Uusimaa Johanna710,Moilanen Jukka78,Tedgård Ulf6,Cammenga Jörg51617,Bryceson Yenan T.19

Affiliation:

1. Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden;

2. Childhood Cancer Research Unit, Department of Women’s and Children’s Health, Karolinska Institutet, Stockholm, Sweden;

3. Division of Pediatrics, and

4. Clinical Genetics Unit, Department of Molecular Medicine and Surgery, and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden;

5. Division of Molecular Hematology, Institution for Laboratory Medicine, Lund University, Lund, Sweden;

6. Department of Pediatric Oncology and Hematology, Skåne University Hospital, Lund, Sweden;

7. PEDEGO Research Unit and Medical Research Center Oulu, University of Oulu, Oulu, Finland;

8. Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland;

9. Broegelmann Research Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway;

10. Department of Children and Adolescents, Oulu University Hospital, Oulu, Finland;

11. Department of Neurology, Lund University, Lund, Sweden;

12. Department of Human Genetics, Hannover Medical School, Hannover, Germany;

13. Department of Clinical Chemistry, Oulu University Hospital, Oulu, Finland;

14. Department of Clinical Genetics, Lund University, Lund, Sweden;

15. Department of Hematology, Oncology and Radiation Physics, Skåne University Hospital, Lund, Sweden;

16. Department of Hematology, Linköping University Hospital, Linköping, Sweden; and

17. Department of Clinical and Experimental Medicine, Linköping University, Linköping, Sweden

Abstract

Key Points Autosomal-dominant SAMD9L gain-of-function mutations predispose to myeloid malignancies involving chromosome 7 aberrations. Hematopoietic reversions frequently occur postnatally and are associated with milder disease manifestations.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3