A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1

Fei Xie; Li-San Zhang

doi:10.1016/j.jstrokecerebrovasdis.2018.06.017

A Chinese CARASIL Patient Caused by Novel Compound Heterozygous Mutations in HTRA1

J Stroke Cerebrovasc Dis. 2018 Oct;27(10):2840-2842. doi: 10.1016/j.jstrokecerebrovasdis.2018.06.017. Epub 2018 Jul 29.

Authors

Fei Xie¹, Li-San Zhang²

Affiliations

¹ Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Center for Sleep Sciences and Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China.
² Department of Neurology, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Center for Sleep Sciences and Medicine, Sir Run Run Shaw Hospital, Zhejiang University School of Medicine, Hangzhou, China. Electronic address: zls09@zju.edu.cn.

PMID: 30068478
DOI: 10.1016/j.jstrokecerebrovasdis.2018.06.017

Abstract

Our objective is to reported a Chinese CARASIL patient caused by novel compound heterozygous mutations in HTRA1. Detailed clinical and neuroimaging examination were conducted in proband and her available family members. Sanger sequencing of NOTCH3 and HTRA1 was used to investigate causative mutations. The patient was born in an outbred family. She experienced recurrent transient ischemic attacks, hair loss, and low back pain. Brain magnetic resonance imaging showed multiple lacunar infarctions, diffuse leukoencephalopathy, and multiple microbleeds of white matter. A compound heterozygous mutation, c.958G > A (p.D320N) and c.1021G > A (p.G341J), were identified in the proband. This report highlights that screening of HTRA1 should be considered in young SVD patient despite from outbred families.

Keywords: CARASIL; Chinese; HTRA1; compound heterozygous mutations.

Publication types

Case Reports

MeSH terms

Adult
Alopecia / diagnostic imaging
Alopecia / ethnology
Alopecia / genetics*
Asian People / genetics*
Cerebral Infarction / diagnostic imaging
Cerebral Infarction / ethnology
Cerebral Infarction / genetics*
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Heredity
Heterozygote
High-Temperature Requirement A Serine Peptidase 1 / genetics*
Humans
Intracranial Hemorrhages / diagnostic imaging
Intracranial Hemorrhages / genetics
Ischemic Attack, Transient / diagnostic imaging
Ischemic Attack, Transient / genetics
Leukoencephalopathies / diagnostic imaging
Leukoencephalopathies / ethnology
Leukoencephalopathies / genetics*
Magnetic Resonance Imaging
Mutation*
Pedigree
Phenotype
Spinal Diseases / diagnostic imaging
Spinal Diseases / ethnology
Spinal Diseases / genetics*
Stroke, Lacunar / diagnostic imaging
Stroke, Lacunar / genetics

Substances

High-Temperature Requirement A Serine Peptidase 1
HTRA1 protein, human

Supplementary concepts

Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy