Somatic MAP3K3 and PIK3CA mutations in sporadic cerebral and spinal cord cavernous malformations

Cavernous malformations affecting the CNS occur in ∼0.16-0.4% of the general population. The majority (85%) of cavernous malformations are in a sporadic form, but the genetic background of sporadic cavernous malformations remains enigmatic. Of the 81 patients, 73 (90.1%) patients were detected carry...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Brain (London, England : 1878) England : 1878), 2021-10, Vol.144 (9), p.2648-2658
Hauptverfasser:	Hong, Tao, Xiao, Xiao, Ren, Jian, Cui, Bing, Zong, Yuru, Zou, Jian, Kou, Zqi, Jiang, Nan, Meng, Guolu, Zeng, Gao, Shan, Yongzhi, Wu, Hao, Chen, Zan, Liang, Jiantao, Xiao, Xinru, Tang, Jie, Wei, Yukui, Ye, Ming, Sun, Liyong, Li, Guilin, Hu, Peng, Hui, Rutai, Zhang, Hongqi, Wang, Yibo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Animals Child Child, Preschool Class I Phosphatidylinositol 3-Kinases - genetics Female Hemangioma, Cavernous, Central Nervous System - diagnostic imaging Hemangioma, Cavernous, Central Nervous System - genetics Humans Male MAP Kinase Kinase Kinase 3 - genetics Middle Aged Mutation - genetics Spinal Cord - diagnostic imaging Young Adult Zebrafish
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	Cavernous malformations affecting the CNS occur in ∼0.16-0.4% of the general population. The majority (85%) of cavernous malformations are in a sporadic form, but the genetic background of sporadic cavernous malformations remains enigmatic. Of the 81 patients, 73 (90.1%) patients were detected carrying somatic missense variants in two genes: MAP3K3 and PIK3CA by whole-exome sequencing. The mutation spectrum correlated with lesion size (P = 0.001), anatomical distribution (P
ISSN:	0006-8950 1460-2156
DOI:	10.1093/brain/awab117