Article
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Human mutation - 1 Nov 2013
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
Abstract excerpt
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. Here, we report two novel NOTCH3 mutations, both leading to a premature stop codon with predicted loss of NOTCH3 function....
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