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Case Report: Novel Copy Number Variant 16p11.2 Duplication Associated With Prune Belly Syndrome

Sriharsha Talluri1, Michael A Goedde1, Eran Rosenberg1,2

  • 1Department of Urology, University of Louisville, Louisville, KY, United States.

Frontiers in Pediatrics
|October 11, 2021
PubMed

Insights

Prune belly syndrome (PBS) is a rare congenital condition affecting males. This study identifies a novel genetic link, reporting the first PBS patient with a 16p11.2 copy number variant.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Medicine

Background:

  • Prune belly syndrome (PBS) is a rare congenital disorder primarily affecting males.
  • Characterized by abdominal wall muscle deficiency, cryptorchidism, and urinary tract anomalies.
  • Associated anomalies include renal, cardiac, and pulmonary issues; chromosomal abnormalities are implicated.

Observation:

  • A patient with Prune belly syndrome was analyzed.
  • Genetic analysis revealed a copy number variant in the 16p11.2 chromosomal region.

Findings:

  • This is the first reported case of Prune belly syndrome associated with a 16p11.2 copy number variant.
  • Suggests a potential role for 16p11.2 variants in the pathogenesis of PBS.
  • Expands the known genetic landscape of Prune belly syndrome.

Implications:

  • Highlights 16p11.2 copy number variants as a potential cause of Prune belly syndrome.
  • May inform genetic counseling and diagnostic approaches for PBS.
  • Further research into 16p11.2's role in congenital anomalies is warranted.

Keywords:
chromosomal duplicationcryptorchidismpediatric urologyprune belly syndromevesicoureteral reflux

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