Diagnostic Notch3 sequence analysis in CADASIL:: Three new mutations in Dutch patients

被引：74

作者：

Oberstein, SAJL

Ferrari, MD

Bakker, E

van Gestel, J

Kneppers, ALJ

Frants, RR

Breuning, MH

Haan, J

机构：

[1] Leiden Univ, Med Ctr, Dept Clin Genet, NL-2300 RC Leiden, Netherlands

[2] Leiden Univ, Med Ctr, Dept Neurol, NL-2300 RC Leiden, Netherlands

[3] Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands

[4] Rijnland Hosp, Dept Neurol, Leiderdorp, Netherlands

来源：

NEUROLOGY | 1999年 / 52卷 / 09期

关键词：

D O I：

10.1212/WNL.52.9.1913

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

To confirm the clinical diagnosis in individual Dutch patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), we performed direct sequence analysis of the abnormal gene, Notch3, in patients from 11 families without prior linkage analysis to chromosome 19. Eleven missense mutations involving the loss or gain of a cysteine residue were found, of which 3 are new. Exon 4 is a mutation hotspot (9 of 11 families). Notch3 sequence analysis of CADASIL patients in a diagnostic laboratory is a feasible procedure to confirm the clinical diagnosis in individual patients.

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页码：1913 / 1915

页数：3

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