1. Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis.
- Author
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Price ME, Fishler KP, Muff-Luett M, Mauch TJ, Brunelli L, and Euteneuer JC
- Subjects
- Mice, Knockout, Female, Urogenital Abnormalities, Animals, Kidney Tubules, Proximal metabolism, Kidney Tubules, Proximal abnormalities, Pregnancy, Mice, Polycystic Kidney Diseases genetics, Aquaporins genetics, Aquaporins metabolism
- Abstract
Congenital renal cystic dysplasia is a rare disease that occurs in approximately 1 in 4000 children and is often discovered in the antenatal period by ultrasound. It is commonly associated with oligohydramnios in utero and/or renal insufficiency or failure in the postnatal period. Aquaporins are membrane proteins that serve as transport channels in the transfer of water or small solutes across cell membranes. They play a role in the development of renal cysts. Aquaporin 11 (AQP11) deficient mice develop polycystic kidney disease in utero due to disruption of polycystin-1. Here we describe a case of bilateral cystic kidney disease in a patient with novel compound heterozygous variants in AQP11: c.780G>T (p. Trp260Cys) and c.472C>T (p.Pro158Ser) (NM_173039.2) identified by whole genome sequencing. These findings suggest, for the first time, the potential role of AQP11 in congenital renal cystic dysplasia., (© 2022 Wiley Periodicals LLC.)
- Published
- 2023
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