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

doi:10.1038/ejhg.2014.243

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Article

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

European journal of human genetics : EJHG - 1 Aug 2015

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, Digilio Maria Cristina, Dallapiccola Bruno, Clementi Maurizio, Tartaglia Marco, De Luca Alessandro

Abstract excerpt

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. Detailed clinical characterization of these subjects and other eight affected relatives showed that all individuals...

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PMID: 25370043
DOI: 10.1038/ejhg.2014.243
PMCID: PMC4795103

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