Global Presence and Penetrance of <i>CSF1R</i> -Related Disorder
Jarosław Dulski, Matthew Baker, Samantha A. Banks, Michael Bayat, Rose Bruffaerts, Gabriela Cruz, Caio César Diniz Disserol, Kristen Fisher, Jainy N. Jose, Bernadette Kalman, Orhun H. Kantarci, Dmytro Maltsev, Catherine Middleton, Gabriela Novotni, Dijana Plaseska‐Karanfilska, Salmo Raskin, Josiane Souza, Hélio Afonso Ghizoni Teive, Zbigniew K. Wszołek
Abstract
Objectives: -RD), discuss its penetrance, and provide the first haplotype analysis. Methods: p.Ile794Thr variant were examined. Results: while the third family displayed a different haplotype. Discussion: -RD has a global prevalence. The reasons for negative family history include de novo variants (as shown by the haplotype analysis), mosaicism, and incomplete penetrance, which are possibly modulated by environmental and genetic factors.