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

Elaine Suk Ying Goh, Irene C. Perez, Cesar P. Canales, Phillip Ruiz, Ron Agatep, Grace Yoon, David Chitayat, Yigal Dror, Mary Shago, Sharan Goobie, Michael Sgro, Katherina Walz, Roberto Mendoza-Londono

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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 0.285Mb critical region, including the FLCN gene that may be important for development of renal abnormalities in patients with this duplication.

Original languageEnglish (US)
Pages (from-to)1579-1588
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number7
StatePublished - Jul 2012


  • Duplication 17p11.2 syndrome
  • FLCN
  • Folliculin
  • Kidney abnormalities
  • Mouse model
  • Potocki-Lupski syndrome

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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