Functional and genetic characterization of two extremely rare cases of Williams-Beuren Syndrome associated with chronic granulomatous disease

  • M.J. S
  • M. M
  • C. M
  • et al.
ISSN: 1018-4813
N/ACitations
Citations of this article
2Readers
Mendeley users who have this article in their library.

Abstract

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multi-systemic manifestations, caused by a heterozygous segmental deletion of 1.55-1.83 Mb at chromosomal band 7q11.23. The deletion can include the NCF1 gene that encodes the p47 phox protein, a component of the leukocyte NADPH oxidase enzyme, which is essential for the defense against microbial pathogens. It has been postulated that WBS patients with two functional NCF1 genes are more susceptible to occurrence of hypertension than WBS patients with only one functional NCF1 gene. We now describe two extremely rare WBS patients without any functional NCF1 gene, because of a mutation in NCF1 on the allele not carrying the NCF1-removing WBS deletion. These two patients suffer from chronic granulomatous disease with increased microbial infections in addition to WBS. Interestingly, one of these patients did suffer from hypertension, indicating that other factors than NADPH oxidase in vascular tissue may be involved in causing hypertension. © 2013 Macmillan Publishers Limited.

Author supplied keywords

Cite

CITATION STYLE

APA

M.J., S., M., M., C., M., V., S., C., C., F., A., … D., R. (2013). Functional and genetic characterization of two extremely rare cases of Williams-Beuren Syndrome associated with chronic granulomatous disease. European Journal of Human Genetics, 21(10), 1079–1084. Retrieved from http://www.embase.com/search/results?subaction=viewrecord&from=export&id=L52408287 http://dx.doi.org/10.1038/ejhg.2012.310

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free