Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations

Jie Wang; Jihong Tang; Yingxi Yang; Yuming Jiao; Ran Huo; Hongyuan Xu; Shaozhi Zhao; Yingfan Sun; Qiheng He; Qifeng Yu; Shuo Wang; Jizong Zhao; Jiguang Wang; Yong Cao

doi:10.1002/ctm2.1610

Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations

Clin Transl Med. 2024 Mar;14(3):e1610. doi: 10.1002/ctm2.1610.

Authors

Jie Wang^{1

2}, Jihong Tang^{3

4}, Yingxi Yang⁴, Yuming Jiao^{1

2}, Ran Huo^{1

2}, Hongyuan Xu^{1

2}, Shaozhi Zhao^{1

2}, Yingfan Sun^{1

2}, Qiheng He^{1

2}, Qifeng Yu^{1

2}, Shuo Wang^{1

2}, Jizong Zhao^{1

2}, Jiguang Wang^{3

4

5}, Yong Cao^{1

2

6}

Affiliations

¹ Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
² China National Clinical Research Center for Neurological Diseases, Beijing, China.
³ SIAT-HKUST Joint Laboratory of Cell Evolution and Digital Health, Shenzhen-Hong Kong Collaborative Innovation Research Institute, Shenzhen, China.
⁴ Division of Life Science, Department of Chemical and Biological Engineering, and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Kowloon, China.
⁵ Hong Kong Center for Neurodegenerative Diseases, Hong Kong SAR, China.
⁶ Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.

No abstract available

Publication types

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

MeSH terms

Catalytic Domain
Genetic Association Studies
Hemangioma, Cavernous, Central Nervous System*
Mutation / genetics
Phosphatidylinositol 3-Kinases* / genetics

Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations

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