DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

doi:10.1172/JCI130206

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Article

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis.

The Journal of clinical investigation - 2 Mar 2020

Rivera Barbara, Nadaf Javad, Fahiminiya Somayyeh, Apellaniz-Ruiz Maria, Saskin Avi, Chong Anne-Sophie, Sharma Sahil, Wagener Rabea, Revil Timothée, Condello Vincenzo, Harra Zineb, Hamel Nancy, Sabbaghian Nelly, Muchantef Karl, Thomas Christian, de Kock Leanne, Hébert-Blouin Marie-Noëlle, Bassenden Angelia V, Rabenstein Hannah, Mete Ozgur, Paschke Ralf, Pusztaszeri Marc P, Paulus Werner, Berghuis Albert, Ragoussis Jiannis, Nikiforov Yuri E, Siebert Reiner, Albrecht Steffen, Turcotte Robert, Hasselblatt Martin, Fabian Marc R, Foulkes William D

Abstract excerpt

BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the...

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PMID: 31805011
DOI: 10.1172/JCI130206
PMCID: PMC7269565

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