Variants in AQP11 may result in autosomal recessive bilateral cystic renal dysgenesis

Michael E. Price, Kristen P. Fishler, Melissa Muff-Luett, Teri J. Mauch, Luca Brunelli, Joshua C. Euteneuer

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)612-616
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number2
StatePublished - Feb 2023


  • AQP11
  • NICU
  • polycystic kidney disease
  • renal dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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