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AGGF1 and Vascular Disease: Klippel-Trenaunay Syndrome 

AGGF1 and Vascular Disease: Klippel-Trenaunay Syndrome
Chapter:
AGGF1 and Vascular Disease: Klippel-Trenaunay Syndrome
Author(s):

Qiuyun Chen

, Mohammad Reza Amini

, and Qing Kenneth Wang

DOI:
10.1093/med/9780199934522.003.0118
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date: 04 March 2021

Genetic factors contribute to the pathogenesis of Klippel-Trenaunay syndrome (KTS). Studies of a chromosomal mutation of translocation t(5;11)(q13.3;p15.1) associated with KTS led to the molecular cloning of a strong candidate gene, AGGF1 for KTS. A follow-up case-control study revealed significant association between AGGF1 variants and risk of KTS, establishing AGGF1 as the first susceptibility gene for KTS. AGGF1 encodes an angiogenic factor that specifies differentiation of veins by activating the AKT signaling pathway as contrast to VEGFA that specifies arteries by activating the ERK signaling pathway. KTS is genetically heterogeneous, and two other chromosomal abnormalities were reported, a de novo translocation t(8;14)(q22.3;q13) and a de novo extra supernumerary ring chromosome 18. Future studies will identify the genes disrupted by these two anomalies and test the association of the newly-identified genes with KTS. Genetic analysis of KTS may lead to new strategies for diagnosis and treatment of KTS patients and other related vascular diseases. Therapeutic angiogenesis based on gene transfer of AGGF1 has already shown a promise in treating peripheral artery disease in a hindlimb ischemic mouse model.

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