HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.

Abstract
Floating-Harbor syndrome (FHS) is a rare genetic disorder recently shown to be caused by mutations in the Snf2-related CREB-binding protein activator protein gene (SRCAP). It comprises three key clinical features of characteristic facies, expressive and receptive speech impairment and short stature. We report on a patient with this syndrome associated with early adult-onset hypertension and bilateral polycystic kidneys. Family screening for polycystic kidney disease was negative and mutations in polycystic kidney disease 1 and 2 genes (PKD1 and PKD2) were absent. Sequencing of the SRCAP gene demonstrated a de novo mutation matching one of the known FHS-associated mutations. The patient required treatment with anti-hypertensives and will require lifelong renal monitoring. We suggest this patient's presentation may be due to the pleiotropic effects of SRCAP mutations. Further, the protein encoded by SRCAP is known to interact with CREB-binding protein, the product of the gene mutated in Rubinstein-Taybi syndrome, which is associated with renal abnormalities. A literature review of the renal findings in patients with Floating-Harbor syndrome identified another patient with possible polycystic kidneys, two patients with early onset hypertension, and a young patient with a ruptured intracranial aneurysm, which can be a feature of classic adult polycystic kidney disease. Collectively, these findings suggest that all patients with Floating-Harbor syndrome should undergo regular blood pressure monitoring and screening for polycystic kidneys by ultrasound at the time of the FHS diagnosis with imaging to be repeated during adulthood if a childhood ultrasound was negative.
AuthorsMichael Reschen, Usha Kini, Rebecca L Hood, Kym M Boycott, Jane Hurst, Christopher A O'Callaghan
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 158A Issue 12 Pg. 3196-200 (Dec 2012) ISSN: 1552-4833 [Electronic] United States
PMID23165645 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2012 Wiley Periodicals, Inc.
Chemical References
  • Adenosine Triphosphatases
  • SRCAP protein, human
Topics
  • Abnormalities, Multiple (genetics)
  • Adenosine Triphosphatases (genetics)
  • Adult
  • Craniofacial Abnormalities (genetics)
  • Growth Disorders (genetics)
  • Heart Septal Defects, Ventricular (genetics)
  • Humans
  • Male
  • Mutation
  • Polycystic Kidney Diseases (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: