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    Home > Active Ingredient News > Study of Nervous System > 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

    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

    • Last Update: 2022-05-26
    • Source: Internet
    • Author: User
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    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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