p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas

• Published in: European journal of human genetics : EJHG Vol. 23; no. 8; pp. 1068 - 1071
• Main Authors: Pinna, Valentina, Lanari, Valentina, Daniele, Paola, Consoli, Federica, Agolini, Emanuele, Margiotti, Katia, Bottillo, Irene, Torrente, Isabella, Bruselles, Alessandro, Fusilli, Caterina, Ficcadenti, Anna, Bargiacchi, Sara, Trevisson, Eva, Forzan, Monica, Giustini, Sandra, Leoni, Chiara, Zampino, Giuseppe, Cristina Digilio, Maria, Dallapiccola, Bruno, Clementi, Maurizio, Tartaglia, Marco, De Luca, Alessandro
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.08.2015
• Subjects: Amino Acid Substitution - genetics; Genetic Counseling; Genetics; Genotype & phenotype; Hospitals; Humans; Mutation; Mutation, Missense; Neurofibroma - diagnosis; Neurofibroma - genetics; Neurofibroma - pathology; Neurofibromatosis; Neurofibromatosis 1 - diagnosis; Neurofibromatosis 1 - genetics; Neurofibromatosis 1 - pathology; Neurofibromin 1; Neurofibromin 1 - genetics; Nodules; Noonan Syndrome - diagnosis; Noonan Syndrome - genetics; Noonan Syndrome - pathology; Patients; Pedigree; Phenotype; Phenotypes; Proteins; Recklinghausen's disease; Skin; Tumors; Italy
• ISSN: 1018-4813; 1476-5438; 1476-5438
• DOI: 10.1038/ejhg.2014.243

Analysis of 786 NF1 mutation-positive subjects with clinical diagnosis of neurofibromatosis type 1 (NF1) allowed to identify the heterozygous c.5425C>T missense variant (p.Arg1809Cys) in six (0.7%) unrelated probands (three familial and three sporadic cases), all exhibiting a mild form of disease...