Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?

Conclusions
Our results, together with previous cases reported, suggest that the offspring of male patients with NF1 could have an increased risk of experiencing de novo NF1 pathogenic variants. This observation, if confirmed in additional cohorts, could have relevant implications for NF1 genetic counselling, family planning and NF1 genetic testing.

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Garcia, B., Catasus, N., Ros, A., Rosas, I., Negro, A., Guerrero-Murillo, M., Valero, A. M., Duat-Rodriguez, A., Becerra, J. L., Bonache, S., Lazaro Garcia, C., Comas, C., Bielsa, I., Serra, E., Hernandez-Chico, C., Martin, Y., Castellanos, E., Blanco, I. Tags: Diagnostics Source Type: research