Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

doi:10.1038/s41431-017-0054-6

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Article

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

European journal of human genetics : EJHG - 1 Jul 2018

Imperatore Valentina, Pinto Anna Maria, Gelli Elisa, Trevisson Eva, Morbidoni Valeria, Frullanti Elisa, Hadjistilianou Theodora, De Francesco Sonia, Toti Paolo, Gusson Elena, Roversi Gaia, Accogli Andrea, Capra Valeria, Mencarelli Maria Antonietta, Renieri Alessandra, Ariani Francesca

Abstract excerpt

Retinoblastoma is the most common eye cancer in children. Numerous families have been described displaying reduced penetrance and expressivity. An extensive molecular characterization of seven families led us to characterize the two main mechanisms impacting on phenotypic expression, as follows: (i) mosaicism of amorphic pathogenic variants; and (ii) parent-of-origin-effect of hypomorphic pathogenic variants....

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PMID: 29662154
DOI: 10.1038/s41431-017-0054-6
PMCID: PMC6018773

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