Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome

Am J Med Genet A. 2012 Jul;158A(7):1579-88. doi: 10.1002/ajmg.a.35399. Epub 2012 May 25.


Potocki-Lupski syndrome is a genomic disorder caused by duplication of 17p11.2. It is characterized by failure to thrive, intellectual disability, hypotonia, and behavioral difficulties. Structural renal anomalies have been observed in <10% of affected individuals. We present detailed clinical and molecular data on six patients with Potocki-Lupski syndrome, two of whom had renal abnormalities, and investigate the prevalence of kidney abnormalities in the mouse model for the syndrome. In contrast to affected humans, the mouse model does not demonstrate a renal phenotype. Comparison of the duplicated segment in patients with Potocki-Lupski syndrome and the renal phenotype and the syntenic duplicated region in the mouse model allowed us to suggest a 0.285 Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Animals
  • Child
  • Child, Preschool
  • Chromosome Banding
  • Chromosome Disorders
  • Chromosome Duplication
  • Chromosome Mapping
  • Chromosomes, Human, Pair 17
  • Disease Models, Animal
  • Female
  • Gene Duplication
  • Humans
  • Infant
  • Kidney / abnormalities*
  • Kidney / pathology
  • Male
  • Mice
  • Phenotype
  • Smith-Magenis Syndrome / complications
  • Smith-Magenis Syndrome / genetics*
  • Urinary Tract / abnormalities

Supplementary concepts

  • Potocki-Lupski syndrome