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Tytuł pozycji:

A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.

Tytuł:
A Chinese CADASIL Family with a Novel Mutation on Exon 10 of Notch3 Gene.
Autorzy:
Liu Y; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China; Department of Neurology, Suzhou Ninth People's Hospital, Suzhou 215200, China.
Huang S; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Yu L; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Li T; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Diao S; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Chen Z; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Zhou G; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China.
Sheng X; Department of Neurology, Suzhou Ninth People's Hospital, Suzhou 215200, China.
Xu Y; Department of Neurology, Suzhou Ninth People's Hospital, Suzhou 215200, China. Electronic address: xyuan_.
Fang Q; Department of Neurology, The First Affiliated Hospital of Soochow University, Suzhou 215006, China. Electronic address: fangqi_.
Źródło:
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association [J Stroke Cerebrovasc Dis] 2021 Aug; Vol. 30 (8), pp. 105674. Date of Electronic Publication: 2021 Jun 10.
Typ publikacji:
Case Reports; Journal Article
Język:
English
Imprint Name(s):
Publication: Philadelphia, PA : Saunders
Original Publication: New York, NY : Demos Publications, [1991-
MeSH Terms:
Mutation, Missense*
CADASIL/*genetics
Receptor, Notch3/*genetics
Adult ; Asian People/genetics ; CADASIL/diagnosis ; CADASIL/ethnology ; China ; DNA Mutational Analysis ; Exons ; Female ; Genetic Predisposition to Disease ; Heredity ; Heterozygote ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Pedigree ; Phenotype
Contributed Indexing:
Keywords: CADASIL; Exon 10; Notch3 gene; Novel mutation
Substance Nomenclature:
0 (NOTCH3 protein, human)
0 (Receptor, Notch3)
Entry Date(s):
Date Created: 20210613 Date Completed: 20210727 Latest Revision: 20221207
Update Code:
20240105
DOI:
10.1016/j.jstrokecerebrovasdis.2021.105674
PMID:
34119749
Czasopismo naukowe
Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is caused by the Notch3 gene mutation, has its unique clinical and imaging characteristics. Here we present a Chinese family with a novel mutation on exon 10 of Notch3 gene.
Methods: Clinical and MRI data of the three patients in the family during the 7-year follow-up were collected. The CADASIL Scale Score was calculated to evaluate the disease risk of the three patients at their first admission or clinic visit. Five family members underwent genetic test.
Results: Genetic test confirmed the diagnosis of CADASIL in this family. A novel mutation of p.C533S on exon 10 of Notch3 gene was detected. The CADASIL score of the proband and her sister was both 17 and that of her brother was 14.
Conclusions: Our report not only expands the mutation spectrum of Notch3 gene in CADASIL, but also shows the distinct heterogeneity of CADASIL patients in the same family with the same mutation.
Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest to declare.
(Copyright © 2021 Elsevier Inc. All rights reserved.)

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