Article
Activating PIK3CA postzygotic mutations in segmental overgrowth of muscles with bone involvement in the body extremities.
Molecular genetics and genomics : MGG - 1 Mar 2022
Tian Wen, Sun Liying, Zhang Qi, Zhao Junhui, Guo Yang, Zhong Wenyao, Liu Liu, Meirelles Katia, Tang Sha, Zhang Jing, Huang Yingzhao, Yin Yuehan, Zhang Nan, Zhao Zongxuan, Li Qingyang, Wu Nan, Fang Ping, Chang Fengqi, Wu Zhihong
Abstract excerpt
Segmental overgrowth of the skeletal muscles with bone involvement in body extremities, predominantly affecting the upper limb, is an extremely rare condition with only 40-50 affected children described clinically. The molecular pathogenesis of this disorder remains largely unclear except for the identification of a somatic PIK3CA mutation in each of the six patients genetically tested, all restricted to upper...
Topics
- Bone Development
- Child
- Class I Phosphatidylinositol 3-Kinases
- Extremities
- Growth Disorders
- Humans
- Muscle, Skeletal
- Mutation
- Phosphatidylinositol 3-Kinases