Possible Role of a Missense Mutation of p.P167S on NOTCH3 Gene Associated with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy.
10.12779/dnd.2016.15.2.52
- Author:
Byung Woo CHOI
1
;
Seongho PARK
;
Hee Jin KIM
Author Information
1. Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea. hyumcbrain@hanyang.ac.kr
- Publication Type:Case Report
- Keywords:
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy;
c.499C>T;
p.P167S
- MeSH:
Aged;
CADASIL*;
Cell Cycle;
Codon;
Cognition Disorders;
Cytosine;
Exons;
Female;
Headache;
Humans;
Memory;
Migraine Disorders;
Mutation, Missense*;
Proline;
Serine;
Stroke;
Thymine
- From:Dementia and Neurocognitive Disorders
2016;15(2):52-54
- CountryRepublic of Korea
- Language:English
-
Abstract:
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a single-gene disorder caused by mutations in the NOTCH3 gene, located on chromosome 19p13. NOTCH3 encodes a transmembrane receptor which plays a role in cellular differentiation and cell cycle regulation. CASE REPORT: A 71-year-old female showing headache and memory impairment, familial history of stroke and having a missense mutation from proline to serine at codon 167 in the exon 4 on NOTCH3 gene. Five family members revealed the same mutation (c.499C>T), who presented migrainous headache and stroke. In this study, we have uncovered a novel NOTCH3 mutation at the nucleotide position 499 (c.499C>T; p.P167S) in a family with CADASIL. CONCLUSIONS: We suggested a missense mutation of proline to serine at codon 167 in exon 4 of the NOTCH3 gene, which resulted in the substitution of cytosine to thymine (c.499C>T) resulting migraine, stroke and vascular cognitive impairment.
