26 September 2019 : Original article
Clinical Features of 4 Novel NOTCH3 Mutations of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy in China
Weiwei Qin1ABCDEF, Zhixia Ren1ABCDEF, Mingrong Xia1ABCD, Miaomiao Yang12ABCD, Yingying Shi1ABCD, Yue Huang1ADEF, Xiangqian Guo3CEF, Jiewen Zhang1ACDEFG*DOI: 10.12659/MSMBR.918830
Med Sci Monit Basic Res 2019; 25:199-209
Abstract
BACKGROUND: This study aimed to identify NOTCH3 mutations and describe the genetic and clinical features and magnetic resonance imaging results in 11 unrelated patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) from Henan province in China.
MATERIAL AND METHODS: NOTCH3 was directly sequenced in 11 unrelated patients of Chinese descent. The clinical presentations and magnetic resonance imaging features were retrospectively analyzed in the 11 index patients with a definite diagnosis.
RESULTS: Seven different mutations were identified in 11 unrelated patients, including 4 novel mutations (p.P167S, p.P652S, p.C709R, and p.R1100H) in China and 3 reported mutations (p.C117R, p.R578C, and p.R607C). Four novel mutations (p.P167S, p.P652S, p.C709R, and p.R1100H) were predicted to be probably pathogenic using an online pathogenicity prediction program through comprehensive analysis. Clinical presentations in symptomatic patients included stroke, cognitive decline, psychiatric disturbances, and migraine. Multiple lacunars infarcts and leukoaraiosis were detected on MRI in most symptomatic patients, while white-matter lesions were identified in the temporal pole or the external capsule in all affected patients.
CONCLUSIONS: The mutation spectrum of CADASIL patients from Henan province in China displayed some differences from that of those reported previously. DNA sequencing was used to diagnose all 11 patients as having CADASIL, and we found 4 novel mutations. The present results further contribute to the enrichment of NOTCH3 mutation databases.
Keywords: CADASIL, Magnetic Resonance Imaging, Mutation, Receptors, Notch, Aged, 80 and over, Asians, Base Sequence, cerebral infarction, Leukoencephalopathies, Receptor, Notch3, Sequence Analysis, DNA
Most Viewed Current Articles
15 Jun 2022 : Clinical Research
Evaluation of Apical Leakage After Root Canal Obturation with Glass Ionomer, Resin, and Zinc Oxide Eugenol ...DOI :10.12659/MSMBR.936675
Med Sci Monit Basic Res 2022; 28:e936675
07 Jul 2022 : Laboratory Research
Cytotoxicity, Apoptosis, Migration Inhibition, and Autophagy-Induced by Crude Ricin from Ricinus communis S...DOI :10.12659/MSMBR.936683
Med Sci Monit Basic Res 2022; 28:e936683
01 Jun 2022 : Laboratory Research
Comparison of Sealing Abilities Among Zinc Oxide Eugenol Root-Canal Filling Cement, Antibacterial Biocerami...DOI :10.12659/MSMBR.936319
Med Sci Monit Basic Res 2022; 28:e936319
08 Dec 2022 : Original article
Use of Estimated Glomerular Filtration Rate and Urine Albumin-to-Creatinine Ratio Based on KDIGO 2012 Guide...DOI :10.12659/MSMBR.938176
Med Sci Monit Basic Res 2022; 28:e938176