Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Background: Brain arteriovenous malformation (BAVM) is a main cause of cerebral hemorrhage and hemorrhagic stroke in adolescents. Morphologically, a BAVM is an abnormal connection between cerebrovascular arteries and veins. The genetic etiology of BAVMs has not been fully elucidated. In this study, we aim to investigate potential recessive genetic variants in BAVMs by interrogation of rare compound heterozygous variants.
Methods: We performed whole exome sequencing (WES) on 112 BAVM trios and analyzed the data for rare and deleterious compound heterozygous mutations associated with the disease.
Results: We identified 16 genes with compound heterozygous variants that were recurrent in more than one trio. Two genes () were recurrently mutated in three trios. has been previously associated with BAVM pathogenesis. Fourteen genes (, , , , , , , , , , , , , ) were recurrently mutated in two trios, and five of these genes (, , , , ) have been reported to play a role in angiogenesis or vascular diseases. Additionally, abnormal expression of the MYLK protein is related to spinal arteriovenous malformations.
Conclusion: Our study indicates that rare recessive compound heterozygous variants may underlie cases of BAVM. These findings improve our understanding of BAVM pathology and indicate genes for functional validation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1136/neurintsurg-2020-016469 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
CETN3 deficiency induces microcephaly by disrupting neural stem/progenitor cell fate through impaired centrosome assembly and RNA splicing.
EMBO Mol Med
September 2025
Institute for Regenerative Medicine, Medical Innovation Center and State Key Laboratory of Cardiovascular Diseases, Shanghai East Hospital, National Stem Cell Translational Resource Center & Ministry of Education Stem Cell Resource Center, Frontier Science Center for Stem Cell Research, School of Li
Primary microcephaly, a rare congenital condition characterized by reduced brain size, occurs due to impaired neurogenesis during brain development. Through whole-exome sequencing, we identified compound heterozygous loss-of-function mutations in CENTRIN 3 (CETN3) in a 5-year-old patient with primary microcephaly. As CETN3 has not been previously linked to microcephaly, we investigated its potential function in neurodevelopment in human pluripotent stem cell-derived cerebral organoids.
View Article and Find Full Text PDFAn enigmatic tale of macrophages in bone marrow causing inflammation of the brain: A case report on CNS HLH.
Hematol Transfus Cell Ther
September 2025
Department of Medicine, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada; Verspeeten Family Cancer Centre, London Health Sciences Centre, London, ON, Canada; Department of Oncology, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada; Th
Background: Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening immune disorder characterized by excessive inflammation and multiorgan involvement. Rarely, HLH can manifest with signs and symptoms isolated to the central nervous system (CNS). This case report highlights the unique clinical course of CNS-isolated HLH in a 19-year-old female who, despite a nine-year delay in diagnosis, achieved disease remission following a hematopoietic stem cell transplant (HSCT).
View Article and Find Full Text PDFBackground: Thiopurine S-methyltransferase (TPMT) is crucial for metabolising thiopurine drugs. This study aimed to establish the cutoff values for TPMT activity in a cohort of healthy individuals. We defined normal TPMT activity ranges and identified clinically applicable thresholds to distinguish individuals with normal TPMT function from those with reduced or deficient activity.
View Article and Find Full Text PDFAcute profound lactic alkalosis associated with compound heterozygosity in a previously healthy 6-year-old female.
Mol Genet Metab Rep
December 2025
Pediatric Critical Care Medicine, Department of Pediatrics NewYork-Presbyterian Morgan Stanley Children's Hospital, Columbia University Medical Center, New York, NY, United States of America.
encodes NADH: ubiquinone oxidoreductase core subunit V1, a key component of mitochondrial Complex 1. Biallelic pathogenic variants in this gene produce a broad and variable phenotypic spectrum in affected individuals, including ophthalmoplegia, developmental delays, brain imaging abnormalities, and recurrent episodes of emesis and lactic acidemia. We report female siblings compound heterozygous for two missense variants (Arg40Gln, Val245Met) in with unusual presentations of this condition.
View Article and Find Full Text PDFA novel bladder phenotype in junctional epidermolysis bullosa: a case report.
Front Pediatr
August 2025
Department of Minimally Invasive Urological Surgery, Children's Hospital Affiliated to Shandong University, Jinan, China.
Background: Junctional epidermolysis bullosa (JEB) is a rare inherited blistering disorder, and its urological spectrum remains poorly defined.
Case Presentation: A 19-month-old boy carrying compound heterozygous mutations (p.R252C, p.