A case of recurrent intracranial hemorrhage in CADASIL caused by NOTCH3 c.1759C>T heterozygous mutation.
J Clin Lab Anal
; 37(2): e24840, 2023 Jan.
Article
en En
| MEDLINE
| ID: mdl-36604800
ABSTRACT
BACKGROUND:
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebrovascular disease that is closely related to the NOTCH3 gene. Recurrent ischemic stroke, progressive cognitive dysfunction, and mental symptoms are the main clinical manifestations, whereas symptomatic intracranial hemorrhage is rare.METHODS:
We detected a heterozygous mutation of c.1759C>T in exon 11 of the NOTCH3 gene that caused recurrent intracranial hemorrhage in CADASIL.RESULTS:
Second-generation sequencing of a sample of the patient's genome revealed a heterozygous mutation of c.1759C>T in exon 11 of NOTCH3, which resulted in amino acid changes (p.R587C). This variation may be rated as a CADASIL clinical variation.CONCLUSION:
The discovery of this mutation site provides an important theoretical basis for a gene-based diagnosis and treatment of recurrent intracranial hemorrhage.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
CADASIL
Límite:
Humans
Idioma:
En
Revista:
J Clin Lab Anal
Asunto de la revista:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Año:
2023
Tipo del documento:
Article
País de afiliación:
China