A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.

Autor: Lagerstedt-Robinson K; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Baranowska Körberg I; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden., Tsiaprazis S; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden., Björck E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Tham E; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Poluha A; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden., Hellström Pigg M; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden., Paulsson-Karlsson Y; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden., Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Johansson-Soller M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden., Aravidis C; Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.

Publikováno v: PloS one [PLoS One] 2022 Feb 17; Vol. 17 (2), pp. e0264056. Date of Electronic Publication: 2022 Feb 17 (Print Publication: 2022).

Exons 1–3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.

Autor: Wang, Yue^1,2 (AUTHOR), Cai, Mengru³ (AUTHOR), Jiang, Xianliang⁴ (AUTHOR), Lv, Guangyu¹ (AUTHOR), Hu, Daiju¹ (AUTHOR), Zhang, Guofeng¹ (AUTHOR), Liu, Jinli⁵ (AUTHOR), Wei, Wei⁶ (AUTHOR), Xiao, Jun⁷ (AUTHOR), Shen, Bing⁸ (AUTHOR), Ryu, Jay H.⁹ (AUTHOR), Hu, Xiaowen¹ (AUTHOR) hu.xiaowen@hotmail.com

Publikováno v: Orphanet Journal of Rare Diseases. 5/12/2023, Vol. 18 Issue 1, p1-9. 9p.