Article
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Nov 2024
Mastromoro Gioia, Santoro Claudia, Motta Marialetizia, Sorrentino Ugo, Daniele Paola, Peduto Cristina, Petrizzelli Francesco, Tripodi Martina, Pinna Valentina, Zanobio Mariateresa, Rotundo Giovannina, Bellacchio Emanuele, Lepri Francesca, Farina Antonella, D'Asdia Maria Cecilia, Piceci-Sparascio Francesca, Biagini Tommaso, Petracca Antonio, Castori Marco, Melis Daniela, Accadia Maria, Traficante Giovanna, Tarani Luigi, Fontana Paolo, Sirchia Fabio, Paparella Roberto, Currò Aurora, Benedicenti Francesco, Scala Iris, Dentici Maria Lisa, Leoni Chiara, Trevisan Valentina, Cecconi Antonella, Giustini Sandra, Pizzuti Antonio, Salviati Leonardo, Novelli Antonio, Zampino Giuseppe, Zenker Martin, Genuardi Maurizio, Digilio Maria Cristina, Papi Laura, Perrotta Silverio, Nigro Vincenzo, Castellanos Elisabeth, Mazza Tommaso, Trevisson Eva, Tartaglia Marco, Piluso Giulio, De Luca Alessandro
Abstract excerpt
PURPOSE: Pathogenic LZTR1 variants cause schwannomatosis and dominant/recessive Noonan syndrome (NS). We aim to establish an association between heterozygous loss-of-function LZTR1 alleles and isolated multiple café-au-lait macules (CaLMs). METHODS: A total of 849 unrelated participants with multiple CaLMs, lacking pathogenic/likely pathogenic NF1 and SPRED1 variants, underwent RASopathy gene panel sequencing....
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