De novo mutation in theNotch3 gene causing CADASIL

Autor:	David D. Dodick, Michaelle Cecillon, Elisabeth Tournier-Lasserve, M.G. Bousser, Anne Joutel, Joseph E. Parisi
Rok vydání:	2000
Předmět:	Genetics Pathology medicine.medical_specialty business.industry CADASIL Syndrome medicine.disease Genetic determinism Neurology Migraine Mutation (genetic algorithm) medicine Dementia Neurology (clinical) Family history business CADASIL Stroke
Zdroj:	Annals of Neurology. 47:388-391
ISSN:	1531-8249 0364-5134
DOI:	10.1002/1531-8249(200003)47:3<388::aid-ana19>3.0.co;2-q
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
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