Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease. - CNRS - Centre national de la recherche scientifique Accéder directement au contenu
Article Dans Une Revue European Journal of Human Genetics Année : 2013

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

Marie J Stasia
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Michèle Mollin
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Gaëlle Vieville
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Joris M van Montfrans
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Jaap J Boelens
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Hermine E Veenstra-Knol
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Karen van Leeuwen
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Martin de Boer
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Dirk Roos
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Résumé

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.European Journal of Human Genetics advance online publication, 23 January 2013; doi:10.1038/ejhg.2012.310.

Domaines

Immunité innée

Dates et versions

hal-00809492 , version 1 (09-04-2013)

Identifiants

Citer

Marie J Stasia, Michèle Mollin, Cécile Martel, Véronique Satre, Charles Coutton, et al.. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.. European Journal of Human Genetics, 2013, epub ahead of print. ⟨10.1038/ejhg.2012.310⟩. ⟨hal-00809492⟩
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