Neurology: New achievements of the neurosurgery team of Peking University Tiantan Hospital - Exon full sequence analysis of De Novo and rare gene variants in patients with cerebral arteriovenous malformations

Brain arteriovenous malformation (bAVM) is a high-flow vascular lesion characterized by the direct connection of feeding arteries and draining veins without an intervening capillary network

Brain arteriovenous malformation (bAVM) is a high-flow vascular lesion characterized by the direct connection of feeding arteries and draining veins without an intervening capillary network

Although bAVM can occur in syndromic vascular malformations such as hereditary hemorrhagic telangiectasia and capillary malformation-arteriovenous malformation syndrome (CM-AVM), more than 95% of cases are sporadic

In addition to de novo variants, rare variants that constitute an individual's genetic background have been shown to contribute significantly to inherited disorders such as genitourinary malformations, complex neuropathies, and Galen's vein malformations

A study from Peking University Tiantan Hospital, published in Neurology, aimed to map de novo mutations and rare germline variants of bAVM

From November 2015 to November 2018, we consecutively recruited sporadic bAVM probands and performed exome sequencing

From November 2015 to November 2018, we consecutively recruited sporadic bAVM probands and performed exome sequencing

• The study ultimately collected a cohort of exome-sequenced bAVMs consisting of 152 triplets and 40 haplotypes
  
  This study provides insights into the biological basis of bAVM by identifying novel molecular pathways and candidate genes
  
  Source: Wang K, Zhao S, Xie Z, et al.
  Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation.
  Neurology.
  2022;98(16):e1670-e1678.
  doi:10.
  1212/ WNL.
  0000000000200114 Source: Wang K, Zhao S, Xie Z, et al.
  Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation.
  Neurology.
  2022;98(16):e1670-e1678.
  doi :10.
  1212/WNL.
  0000000000200114
  
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