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Am J Perinatol 2010; 27(7): 559-563
DOI: 10.1055/s-0030-1248943
© Thieme Medical Publishers

Deletion of Hepatocyte Nuclear Factor-1-Beta in an Infant with Prune Belly Syndrome

Sina Haeri1 , Patricia L. Devers1 , Kathleen A. Kaiser-Rogers2 , Vincent J. Moylan2 , Beth S. Torchia3 , Amanda L. Horton1 , Honor M. Wolfe1 , Arthur S. Aylsworth4
  • 1Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina
  • 2Department of Pathology and Laboratory Medicine, University of North Carolina School of Medicine, Chapel Hill, North Carolina
  • 3Signature Genomic Laboratories, Spokane, Washington
  • 4Departments of Pediatrics and Genetics, University of North Carolina School of Medicine, Chapel Hill, North Carolina
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Publication History

Publication Date:
19 February 2010 (online)

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ABSTRACT

Prune belly syndrome is a rare congenital disorder characterized by deficiency of abdominal wall muscles, cryptorchidism, and urinary tract anomalies. We have had the opportunity to study a baby with prune belly syndrome associated with an apparently de novo 1.3-megabase interstitial 17q12 microdeletion that includes the hepatocyte nuclear factor-1-β gene at 17q12. One previous patient, an adult, has been reported with prune belly syndrome and a hepatocyte nuclear factor-1-β microdeletion. Hepatocyte nuclear factor-1-β is a widely expressed transcription factor that regulates tissue-specific gene expression and is expressed in numerous tissues including mesonephric duct derivatives, the renal tubule of the metanephros, and the developing prostate of the mouse. Mutations in hepatocyte nuclear factor-1-β cause the “renal cysts and diabetes syndrome,” isolated renal cystic dysplasia, and a variety of other malformations. Based on its expression pattern and the observation of two affected cases, we propose that haploinsufficiency of hepatocyte nuclear factor-1-β may be causally related to the production of the prune belly syndrome phenotype through a mechanism of prostatic and ureteral hypoplasia that results in severe obstructive uropathy with urinary tract and abdominal distension.

KEYWORDS

Prune belly syndrome - Eagle-Barrett syndrome - Obrinsky syndrome - Fröhlich's syndrome - triad syndrome - chromosome 17q - CGH - HNF1B - vHnf1 - TCF2

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Sina HaeriM.D. M.H.S.A. 

University of North Carolina School of Medicine, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine

3010 Old Clinic Building, CB# 7516, Chapel Hill, NC 27599-7516

Email: SinaHaeri@Gmail.com

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