Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans

ABSTRACT Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by stereotyped missense mutations in NOTCH3. Whether these mutations lead to the CADASIL phenotype via a neomorphic effect, or rather by a hypomorphic effect, is subject of debate....

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Veröffentlicht in:	Human mutation 2013-11, Vol.34 (11), p.1486-1489
Hauptverfasser:	Rutten, Julie W., Boon, Elles M.J., Liem, Michael K., Dauwerse, Johannes G., Pont, Margot J., Vollebregt, Ellen, Maat-Kievit, Anneke J., Ginjaar, Hendrika B., Lakeman, Phillis, van Duinen, Sjoerd G., Terwindt, Gisela M., Lesnik Oberstein, Saskia A.J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Alleles Biopsy Brain - pathology CADASIL CADASIL - diagnosis CADASIL - genetics deletion DNA Mutational Analysis Heterozygote Humans hypomorphic allele Magnetic Resonance Imaging Male Middle Aged Mutation nonsense mutation NOTCH3 Pedigree Phenotype Receptor, Notch3 Receptors, Notch - genetics Sequence Deletion
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