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    Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries

    Nelly Sabbaghian1, Maria C. Digilio2, Gillian M. Blue3,4, Timothée Revil5, David S. Winlaw3,4, William D. Foulkes1,6

    Congenital Heart Disease, Vol.13, No.3, pp. 401-406, 2018, DOI:10.1111/chd.12578

    Abstract Objective: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a report linking DICER1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries.
    Design: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 30 untranslated region of DICER1 in patient DNA.
    Cases: Germline DNA was collected from 129 patients with either sporadic or familial… More >

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