A Chinese CADASIL family with a rare heterozygous mutation in exon 2 of NOTCH3: A case report

被引:0
作者
Guo, Jingrong [1 ,2 ]
Liu, Lulu [3 ]
Yan, Minli [4 ]
机构
[1] Henan Univ Chinese Med, Dept Neurol, Affiliated Hosp 1, Zhengzhou, Peoples R China
[2] Henan Univ Chinese Med, Sch Clin Med 1, Zhengzhou, Peoples R China
[3] Third Peoples Hosp Luoyang, Dept Neurol, Luoyang, Peoples R China
[4] Zhejiang Chinese Med Univ, Zhejiang Prov Hosp Chinese Med, Dept Neurol, Affiliated Hosp 1, Hangzhou, Peoples R China
关键词
CADASIL; exon; 2; novel mutation; the NOTCH3 gene; GENE; SPECTRUM; PATIENT; DISEASE;
D O I
10.1097/MD.0000000000040107
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Rationale:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited cerebrovascular disease caused by the neurogenic locus notch homolog protein 3 (NOTCH3) gene mutation. In recent years, most of the newly reported mutations of CADASIL patients mainly occur in exon 3 to 24, while the cases related to exon 2 mutation are rare, and clinical research data are relatively insufficient. In this study, we have reported a case of a rare heterozygous mutation c.128G>A (p.Cys43Tyr) in exon 2 of NOTCH3 in a 41-year-old Chinese man in the light of relevant literatures. Patient concerns:A 41-year-old man who suffered slurred speech for 5 days and right lower limb weakness for 4 days was admitted to our hospital. Diagnoses:Magnetic resonance imaging of the head revealed diffuse white matter lesions involving the outer capsular area and bilateral temporal poles. The rare heterozygous mutation c.128G>A (p.Cys43Tyr) in exon 2 of NOTCH3 was identified through molecular genetic testing. The proband was diagnosed as having CADASIL. Meanwhile, the same mutation was detected in 2 other family members III5 and IV9. Interventions:Atorvastatin calcium tablet (20 mg qd) and aspirin enteric-coated tablet (100 mg qd). Outcomes:The patient was hospitalized for 3 weeks and discharged after his symptoms improved. Lessons:The heterozygous Cys43Tyr mutation in exon 2 of NOTCH3 is rare. Thus, our case report complements the rare mutation of exon 2 and offers additional clinical data for CADASIL patients.
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页数:4
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