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Last update

21/6/2017

Phenotype: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

OMIM: 125310
Inheritance: Autosomal dominant
Classification: Mental and behavioural disorders

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

NOTCH3 || c.1187C>G

Gene/Locus:	NOTCH3
Dna Change:	c.1187C>G
Protein Change:	p.Ser396Cys
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 7
Transcript:	NM_000435.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	northern and central Italy	10 patients/53 patients	NA	Testi S et al., 2012Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM, . Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).. J. Neurol. Sci.. 2012; 319(1):37-41

References

Testi S, Malerba G, Ferrarini M, Ragno M, Pradotto L, Mauro A, Fabrizi GM, Mutational and haplotype map of NOTCH3 in a cohort of Italian patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).J. Neurol. Sci.. 2012; 319(1):37-41

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy

References