title: Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
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.
authors: 1] Chronic Granulomatous Disease Diagnosis and Research Centre, Therex-TIMC/Imag, UMR CNRS 5525, UJF-Grenoble 1, Grenoble, France [2] Pôle Biologie, CHU de Grenoble, Grenoble, France.
authors: Marie J
authors: MJ
authors: Stasia
authors: Michèle
authors: M
authors: Mollin
authors: Cécile
authors: C
authors: Martel
authors: Véronique
authors: V
authors: Satre
authors: Charles
authors: C
authors: Coutton
authors: Florence
authors: F
authors: Amblard
authors: Gaëlle
authors: G
authors: Vieville
authors: Joris M
authors: JM
authors: van Montfrans
authors: Jaap J
authors: JJ
authors: Boelens
authors: Hermine E
authors: HE
authors: Veenstra-Knol
authors: Karen
authors: K
authors: van Leeuwen
authors: Martin
authors: M
authors: de Boer
authors: Jean-Paul
authors: JP
authors: Brion
authors: Dirk
authors: D
authors: Roos
mesh_terms: D000293:Adolescent; D000483:Alleles; D002675:Child, Preschool; D017353:Gene Deletion; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D019255:NADPH Oxidases / Q000172:deficiency* / Q000235:genetics / Q000378:metabolism; D009504:Neutrophils / Q000378:metabolism; D018980:Williams Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
chemical_list: D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1