Phenotypic comparison of individuals with homozygous or heterozygous mutation of NOTCH3 in a large CADASIL family
详细信息 查看全文
- 作者：Hussam Abou Al-Shaara ; b ; aboualshaar.hussam@gmail.com" class="auth_mail" title="E-mail the corresponding author ; Najeeb Qadia ; b ; nqadi@kfshrc.edu.sa" class="auth_mail" title="E-mail the corresponding author ; Mohamed H. Al-Hamedc ; hamed@kfshrc.edu.sa" class="auth_mail" title="E-mail the corresponding author ; Brian F. Meyerc ; d ; meyerb@kfshrc.edu.sa" class="auth_mail" title="E-mail the corresponding author ; Saeed Bohlegaa ; b ; boholega@kfshrc.edu.sa" class="auth_mail" title="E-mail the corresponding author
- 关键词：CADASIL ; NOTCH3 ; Homozygous ; Heterozygous ; Mutation ; Stroke
- 刊名：Journal of the Neurological Sciences
- 出版年：2016
- 出版时间：15 August 2016
- 年：2016
- 卷：367
- 期：Complete
- 页码：239-243
- 全文大小：540 K
文摘
- •
Homozygous mutations are extremely rare in CADASIL.
- •
We report the largest series to date on NOTCH3 homozygous mutation and compare the phenotype to heterozygous patients.
- •
Homozygous C3769T mutation was found in 7 family members, while heterozygous mutation was found in 6 members.
- •
The phenotype of homozygous individuals is within the spectrum of CADASIL, although slightly at the severe end when compared to heterozygotes.
- •
Genetic modifiers and environmental factors may play a role in the severity of the clinical phenotype and imaging features of CADASIL patients.