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Familial multinodular goitre and schwannomatosis

Whole exome sequencing of a kindred with early-onset MNG and schwannomatosis with a germline pathogenic variants in DGCR8. MiRNA profiles of four tissue types were compared, and sequencing of MiRNA, pre-miRNA and mRNA was performed in a subset of 9 schwannomas, four of which harbor DGCR8-E518K.The variant identified is a somatic hotspot in WT and has been identified in two PTCs. Copy number loss of chromosome 22q, leading to loss of heterozygosity at the c.1552G>A;p.E518K locus, was found in all 13 samples harboring c.1552G>A;p.E518K. miRNA profiling of PTC, MNG, schwannomas and WT revealed a common profile among E518K hemizygous tumors.

Type: Other
Archive: European Genome-phenome Archive (EGA)

1 Publication

Publications	Citations
DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. J Clin Invest 130: 2020 1479-1490	57

Publications

Citations

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.
Rivera B, Nadaf J, Fahiminiya S, Apellaniz-Ruiz M, Saskin A, Chong AS, Sharma S, Wagener R, Revil T, Condello V, Harra Z, Hamel N, Sabbaghian N, Muchantef K, Thomas C, de Kock L, Hébert-Blouin MN, Bassenden AV, Rabenstein H, Mete O, Paschke R, Pusztaszeri MP, Paulus W, Berghuis A, Ragoussis J, Nikiforov YE, Siebert R, Albrecht S, Turcotte R, Hasselblatt M, Fabian MR, Foulkes WD. J Clin Invest 130: 2020 1479-1490