Genetic approaches to human renal agenesis/hypoplasia and dysplasia

Simone Sanna-Cherchi, Gianluca Caridi, Patricia L. Weng, Francesco Scolari, Francesco Perfumo, Ali G. Gharavi, Gian Marco Ghiggeri

Research output: Contribution to journalArticlepeer-review


Congenital abnormalities of the kidney and urinary tract are frequently observed in children and represent a significant cause of morbidity and mortality. These conditions are phenotypically variable, often affecting several segments of the urinary tract simultaneously, making clinical classification and diagnosis difficult. Renal agenesis/hypoplasia and dysplasia account for a significant portion of these anomalies, and a genetic contribution to its cause is being increasingly recognized. Nevertheless, overlap between diseases and challenges in clinical diagnosis complicate studies attempting to discover new genes underlying this anomaly. Most of the insights in kidney development derive from studies in mouse models or from rare, syndromic forms of human developmental disorders of the kidney and urinary tract. The genes implicated have been shown to regulate the reciprocal induction between the ureteric bud and the metanephric mesenchyme. Strategies to find genes causing renal agenesis/hypoplasia and dysplasia vary depending on the characteristics of the study population available. The approaches range from candidate gene association or resequencing studies to traditional linkage studies, using outbred pedigrees or genetic isolates, to search for structural variation in the genome. Each of these strategies has advantages and pitfalls and some have led to significant discoveries in human disease. However, renal agenesis/ hypoplasia and dysplasia still represents a challenge, both for the clinicians who attempt a precise diagnosis and for the geneticist who tries to unravel the genetic basis, and a better classification requires molecular definition to be retrospectively improved. The goal appears to be feasible with the large multicentric collaborative groups that share the same objectives and resources.

Original languageEnglish
Pages (from-to)1675-1684
Number of pages10
JournalPediatric Nephrology
Issue number10
Publication statusPublished - Oct 2007


  • Association studies
  • Gene mapping
  • Linkage analysis
  • Renal agenesis/hypoplasia and dysplasia
  • Structural variants

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health


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