Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism

In conclusion, blood cell RNA analysis allows testing the potential effect of any OCA2 VUS on transcription products. This should help to elucidate yet unsolved OCA2 patients and improve genetic counseling.PMID:37650133 | DOI:10.1111/pcmr.13123

Source: Pigment Cell and Melanoma Research - August 31, 2023 Category: Cytology Authors: Vincent Michaud Ang èle Sequeira Elina Mercier Eulalie Lasseaux Claudio Plaisant Smail Hadj-Rabia Sandra Whalen Dominique Bonneau Anne Dieux-Coeslier Fanny Morice-Picard Juliette Coursimault Beno ît Arveiler Sophie Javerzat Source Type: research