Biallelic ANGPT2 loss-of-function causes severe early onset nonimmune hydrops fetalis

Variants in the angiopoietin 2 (ANGPT2) gene were recently shown to cause lymphedema in children and adults by dominant inheritance. In a single family that experienced recurrent pregnancy loss due to severe generalized swelling of the fetuses (hydrops fetalis), we identified a novel disorder caused by bi-allelic variants in the ANGPT2 gene. Angiopoietin 2 is crucial for formation of lymphatic vessels, and complete loss of angiopoietin 2 function seems to be incompatible with life. This adds ANGPT2 to the list of genes in which mutations cause severe fetal hydrops. (By Dr. Marie Smeland, https://jmg.bmj.com/content/early/2021/12/06/jmedgenet-2021-108179 )

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