Document Detail


Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease.
MedLine Citation:
PMID:  23340515     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Marie J Stasia; Michèle Mollin; Cécile Martel; Véronique Satre; Charles Coutton; Florence Amblard; Gaëlle Vieville; Joris M van Montfrans; Jaap J Boelens; Hermine E Veenstra-Knol; Karen van Leeuwen; Martin de Boer; Jean-Paul Brion; Dirk Roos
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-23
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  21     ISSN:  1476-5438     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-09-19     Completed Date:  2014-05-01     Revised Date:  2014-10-12    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  1079-84     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Alleles
Child, Preschool
Gene Deletion
Granulomatous Disease, Chronic / complications,  diagnosis,  genetics*,  metabolism
Humans
Male
NADPH Oxidase / deficiency*,  genetics,  metabolism
Neutrophils / metabolism
Williams Syndrome / complications,  diagnosis,  genetics*,  metabolism
Chemical
Reg. No./Substance:
EC 1.6.3.1/NADPH Oxidase; EC 1.6.3.1/neutrophil cytosolic factor 1
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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