Hydrops fetalis

Gene: PIEZO1

Green List (high evidence)

PIEZO1 is known to encode a mechanically activated ion channel in the plasma membrane of several types of cells (including hepatic erythroblasts, fetal splenic plasma cells, and lymphatic vessels of fetal peritoneum) and highly conserved in mammalia

Biallelic PIEZO1 loss-of-function mutations were first reported cause autosomal recessive congenital lymphatic dysplasia (GLD) (OMIM 616843), which is one rare cause of NIHF in utero and can present as generalized lymphoedema involving hydrothorax, hydropericardium, chylothorax, facial and extremities lymphoedema, intestinal or pulmonary lymphangiectasia

Lymphatic malformation-6 is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions.There is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema

Created: 21 Apr 2022, 11:37 p.m. | Last Modified: 21 Apr 2022, 11:37 p.m.

Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
lymphatic dysplasia (GLD) (OMIM #616843),

Publications

• 23581886
• 34421994
• 26333996