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 p47phox 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.
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Acknowledgements
MJS is grateful for support from the University Joseph Fourier, Faculty of Medicine; the Ministry of Education and Research, MENRT; the Regional Clinical Research Department, DRCI, Grenoble University Hospital, the CGD Research Trust grant award reference J4G/09/09. DR is co-recipient of an E-Rare research grant on CGD from the European Union.
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Stasia, M., Mollin, M., Martel, C. et al. Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease. Eur J Hum Genet 21, 1079–1084 (2013). https://doi.org/10.1038/ejhg.2012.310
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DOI: https://doi.org/10.1038/ejhg.2012.310
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