Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 191, Issue 8, Pages 2188-2192Publisher
WILEY
DOI: 10.1002/ajmg.a.63237
Keywords
chylothorax; congenital; genetic diseases; human; inborn; lymphedema; PIEZO1 protein
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PIEZO1 gene mutations are associated with lymphatic valve formation abnormalities and various lymphatic abnormalities, such as neonatal hydrops, lymphedema, and chylothorax. However, persistent or recurrent chylothorax associated with PIEZO1 gene mutations is rare.
PIEZO1 is required for lymphatic valve formation, and several lymphatic abnormalities have been reported to be associated with autosomal recessive PIEZO1 pathogenic variants including neonatal hydrops, lymphedema involving various body regions, and chylothorax. Persistent or recurrent chylothorax has been infrequently described in association with pathogenic variants in the PIEZO1 gene. We present a 4-year-old female with bilateral pleural effusions detected prenatally, who was diagnosed with bilateral chylothoraces post-partum. She subsequently had recurrent pleural effusions involving both pleural cavities, which tended to improve with restriction of her fat intake, and, one occasion, subcutaneous octreotide. She also had bilateral calf, and intermittent cheek swelling. Genetic testing revealed two deleterious variants in PIEZO1: c.2330-2_2330-1del and c.3860G > A (p.Trp1287*), both of which were classified as likely pathogenic. This supported a diagnosis of Lymphatic Malformation Type 6 (OMIM 616843), also known as Hereditary Lymphedema Type III. Hereditary Lymphedema type III can be associated with persistent chylothorax that can vary in size over time.
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