High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

doi:10.1136/jmedgenet-2015-103428

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Article

High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome.

Journal of medical genetics - 1 Jan 2016

de Kock Leanne, Wang Yu Chang, Revil Timothée, Badescu Dunarel, Rivera Barbara, Sabbaghian Nelly, Wu Mona, Weber Evan, Sandoval Claudio, Hopman Saskia M J, Merks Johannes H M, van Hagen Johanna M, Bouts Antonia H M, Plager David A, Ramasubramanian Aparna, Forsmark Linus, Doyle Kristine L, Toler Tonja, Callahan Janine, Engelenberg Charlotte, Bouron-Dal Soglio Dorothée, Priest John R, Ragoussis Jiannis, Foulkes William D

Abstract excerpt

BACKGROUND: Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in DICER1 in two children with overgrowth and developmental delay as well as more typical phenotypes of germline DICER1 mutation. However, very-low-frequency mosaicism...

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Identifiers

PMID: 26475046
DOI: 10.1136/jmedgenet-2015-103428

Genes

DICER1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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