Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking. To identify genetic variants contributing to the etiology of IVAD, we enrolled a cohort of 44 unrelated cases with a clinical diagnosis of isolated IVAD and performed whole-exome sequencing (WES) for all the participants; a trio exome sequencing approach was used when samples from both parents were available. Four previously reported disease-causing heterozygous variants (three in COL3A1 and one in FBN1) and seven novel heterozygous variants in IVAD-related genes were identified. In addition, six variants in novel IVAD genes including two de novo heterozygous nonsynonymous variants (each in VPS52 and CDK18), two stop-gain variants (each in MYH9 and LYL1), and two heterozygous biallelic variants in TNXB were considered to be possibly contributing to the phenotype, with unknown significance according to the existing knowledge. A significantly higher mutational rate of IVAD candidate genes was observed in patients versus our in-house controls (P = 0.002) (DISCO study, http://www.discostudy.org/ , n = 2248). Our study provided a mutational landscape for patients with isolated IVAD.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1038/s10038-018-0496-x | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
The impact of initial vascular morphology on outcomes in patients with intracranial vertebral artery dissection presenting with isolated headache.
J Neurosurg
November 2024
1Department of Neurosurgery, Graduate School of Medicine, Yokohama City University, Yokohama, Japan.
Article Synopsis
- The study aimed to assess the prognosis of isolated headache caused by intracranial vertebral artery dissection (iVAD) without the occurrence of subarachnoid hemorrhage (SAH) or stroke.
- Researchers analyzed 105 patients over a median follow-up of 478 days, finding that none developed SAH or stroke, but a small percentage required endovascular treatment for aneurysm enlargement, particularly in those with aneurysm dilatation without stenosis.
- The results indicated that while most patients had a good outcome, those with aneurysm dilatation required closer monitoring and had a higher risk of requiring surgery due to aneurysm growth.
Comparative analysis of prevalence, evaluation, management, and rehabilitation outcome of spontaneous isolated visceral artery dissection: a systematic review and meta-analysis of 80 reports.
Int J Surg
March 2023
Physical Therapy Center, Wangjing Hospital of CACMS, Beijing, China.
Background: Because of relatively little data for management and evaluation surrounding spontaneous isolated visceral artery dissection (IVAD), existing studies have failed to provide comprehensive analysis for the management, evaluation, prevalence, as well as natural course of the disease. Therefore, we collected and analyzed current evidence on spontaneous IVAD with the aim of providing quantitative pooled data for the natural course and treatment standardization of the disease.
Methods: A systematic search of PubMed, Embase, the Cochrane Library, and Web of Science up to 1 June 2022, was conducted for relevant studies that investigating the natural course, treatment, classification, and outcomes of IVAD.
Lumbar spine intervertebral disc gene delivery of BMPs induces anterior spine fusion in lewis rats.
Sci Rep
October 2022
HSS Research Institute, Hospital for Special Surgery, 515 E 71st Street, New York, NY, 10021, USA.
Minimally invasive techniques and biological autograft alternatives such as the bone morphogenetic proteins (BMPs) can reduce morbidity associated with spinal fusions. This study was a proof-of-concept for gene-therapy-mediated anterior spine fusion that could be adapted to percutaneous technique for clinical use. Isogeneic bone marrow stromal cells genetically programmed to express b-galactosidase (LACZ, a marker gene), BMP2, BMP7, a mixture of BMP2 and BMP7 infected cells (homodimers, HM), or BMP2/7 heterodimers (HT) were implanted into the discs between lumbar vertebrae 4 and 5 (L4/5) and L5/6 of male Lewis rats.
View Article and Find Full Text PDFWhole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).
J Hum Genet
November 2018
Department of Interventional Neuroradiology, Beijing Neurosurgical Institute and Beijing Tiantan Hospital, Capital Medical University, Beijing, China.
Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking.
View Article and Find Full Text PDFClinical Features and Therapeutic Options for Isolated Visceral Artery Dissection.
Ann Vasc Surg
January 2016
Department of Vascular Surgery, Second Hospital Affiliated to Soochow University, Soochow, China. Electronic address:
Background: The diagnosis of isolated visceral artery dissection (IVAD) has become more common with the increasing use of computed tomography angiography (CTA). We examined the presentation, treatment, and outcomes of patients with IVAD treated at our institution.
Methods: The records of 72 patients treated for IVAD between January 2010 and August 2014 were analyzed retrospectively.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!