Article
SHP2's gain-of-function in Werner syndrome causes childhood disease onset likely resulting from negative genetic interaction.
Clinical genetics - 1 Jul 2022
Priolo Manuela, Palermo Valentina, Aiello Francesca, Ciolfi Andrea, Pannone Luca, Muto Valentina, Motta Marialetizia, Mancini Cecilia, Radio Francesca Clementina, Niceta Marcello, Leoni Chiara, Pintomalli Letizia, Carrozzo Rosalba, Rajola Giuseppe, Mammì Corrado, Zampino Giuseppe, Martinelli Simone, Dallapiccola Bruno, Pichierri Pietro, Tartaglia Marco
Abstract excerpt
Prompt diagnosis of complex phenotypes is a challenging task in clinical genetics. Whole exome sequencing has proved to be effective in solving such conditions. Here, we report on an unpredictable presentation of Werner Syndrome (WRNS) in a 12-year-old girl carrying a homozygous truncating variant in RECQL2, the gene mutated in WRNS, and a de novo activating missense change in PTPN11, the major Noonan syndrome...
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