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Kidney Week

Abstract: PO1277

17q12 Deletion Syndrome Presenting as Congenital Diaphragmatic Hernia in a 2-Month-Old Infant

Session Information

Category: Genetic Diseases of the Kidneys

  • 1001 Genetic Diseases of the Kidneys: Cystic


  • Heidenreich, Leah S., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Thacker, Paul G., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Chebib, Fouad T., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Sas, David J., Mayo Clinic Minnesota, Rochester, Minnesota, United States
  • Hanna, Christian, Mayo Clinic Minnesota, Rochester, Minnesota, United States

17q12 deletion syndrome results from the loss of as many as 15 genes on the long arm of chromosome 17 including the hepatocyte nuclear factor-1-beta gene (HNF1B). Heterozygous pathogenic variants, whole gene deletion, or duplication in HNF1B are frequently linked to inherited kidney malformations including hyperechoic kidneys, kidney cysts, solitary kidney, and hydronephrosis as well as extrarenal phenotypic features. 17q12 deletion syndrome has also been linked to congenital diaphragmatic hernia (CDH). We present a case of an infant with hyperechoic and cystic kidneys, diagnosed postnatally with CDH.

Case Description

A 2-month-old female with a history of hyperechoic kidneys on prenatal ultrasound presented to the emergency department with increased work of breathing. A chest x-ray revealed left hemidiaphragm elevation, normal cardiac silhouette, and no focal pulmonary consolidation. Computed tomography of the chest confirmed the diagnosis of CDH. A repeat kidney ultrasound revealed diffuse hyperechoic kidneys and a focal kidney cyst within the right upper pole (Image 1). Genetic workup revealed a 1.9 megabase deletion on the long arm of chromosome 17 consistent with the diagnosis of 17q12 deletion syndrome.


Pathogenic variants in HNF1B or whole gene deletion as part of 17q12 deletion syndrome should be considered in infants with hyperechoic kidneys with cysts, particularly in the context of extrarenal manifestations. Studies have examined the link between HNF1B and the development of a CDH. It is proposed that HNF1B is involved in the WNT signaling pathway that is critical to mesodermal differentiation and proper diaphragm formation. Only 4 other cases of HNF1B mutations associated with CDH are reported in the literature. Two cases describe HNF1B deletions, and 2 cases describe HNF1B duplications. It is possible that the high prenatal mortality of CDH could explain the paucity of this association.