De novo mutation in the Notch3 gene causing CADASIL

Autor:	A, Joutel, D D, Dodick, J E, Parisi, M, Cecillon, E, Tournier-Lasserve, M G, Bousser
Rok vydání:	2000
Předmět:	Male Receptors Notch Mutation Missense Brain Receptors Cell Surface Middle Aged Magnetic Resonance Imaging Pedigree Microscopy Electron Dementia Multi-Infarct Proto-Oncogene Proteins Humans Receptor Notch3 Skin
Zdroj:	Annals of neurology. 47(3)
ISSN:	0364-5134
Popis:	CADASIL, an autosomal dominant arteriopathy responsible for stroke and dementia, is caused by strongly stereotyped mutations in the Notch3 gene. We report a patient with a condition strongly suggestive of CADASIL (migraine, stroke, and white matter abnormalities), except that this patient did not have any first-degree relatives with similar symptoms. This patient carried a heterozygous Arg182Cys mutation in the Notch3 gene; this mutation was absent in his two biological parents. These data demonstrate the occurrence of a de novo noninherited mutation in the Notch3 gene, which indicates that CADASIL should not be rejected in the absence of a family history. Therefore, our finding suggests that CADASIL may be more frequent than anticipated.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::87d4a40c6e5389500326b60459e79485 https://pubmed.ncbi.nlm.nih.gov/10716263 Zobrazit plný text záznamu Plný text