Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1

• Published in: European journal of human genetics : EJHG Vol. 30; no. 11; pp. 1239 - 1243
• Main Authors: Alesi, Viola, Lepri, Francesca Romana, Dentici, Maria Lisa, Genovese, Silvia, Sallicandro, Ester, Bejo, Kristel, Dallapiccola, Bruno, Capolino, Rossella, Novelli, Antonio, Digilio, Maria Cristina
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.11.2022; Springer International Publishing
• Subjects: Breakpoints; Cognitive development; Exons; Genes; Genes, Neurofibromatosis 1; Genetic disorders; Genetics; Genomes; Genotype & phenotype; Hereditary diseases; Hospitals; Humans; Mutation; Neurofibromatosis; Neurofibromatosis 1 - genetics; Neurofibromin 1; Neurofibromin 1 - genetics; Neurological disorders; Patients; Phenotype; Phenotypes; Recklinghausen's disease; Scoliosis; Sequence analysis; Skin diseases; Tumors

Neurofibromatosis type 1 (NF1), an autosomal dominant disorder characterized by skin pigmentary lesions and multiple cutaneous neurofibromas, is caused by neurofibromin 1 (NF1) loss of function variants. Currently, a molecular diagnosis is frequently established using a multistep protocol based on c...