Article
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Human mutation - 1 Oct 2010
Thomas Sophie, Encha-Razavi Ferechté, Devisme Louise, Etchevers Heather, Bessieres-Grattagliano Bettina, Goudefroye Géraldine, Elkhartoufi Nadia, Pateau Emilie, Ichkou Amale, Bonnière Maryse, Marcorelle Pascale, Parent Philippe, Manouvrier Sylvie, Holder Muriel, Laquerrière Annie, Loeuillet Laurence, Roume Joelle, Martinovic Jelena, Mougou-Zerelli Soumaya, Gonzales Marie, Meyer Vincent, Wessner Marc, Feysot Christine Bole, Nitschke Patrick, Leticee Nadia, Munnich Arnold, Lyonnet Stanislas, Wookey Peter, Gyapay Gabor, Foliguet Bernard, Vekemans Michel, Attié-Bitach Tania
Abstract excerpt
Rare lethal disease gene identification remains a challenging issue, but it is amenable to new techniques in high-throughput sequencing (HTS). Cerebral proliferative glomeruloid vasculopathy (PGV), or Fowler syndrome, is a severe autosomal recessive disorder of brain angiogenesis, resulting in abnormally thickened and aberrant perforating vessels leading to hydranencephaly. In three multiplex consanguineous...
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