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Neurofibromatosis Type 1 pp 269–285Cite as

Modifier Genes in NF1

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Abstract

Although neurofibromatosis 1 (NF1) is a common Mendelian condition with an autosomal dominant pattern of inheritance, its expression is highly variable and unpredictable. Among the several causes of variable phenotypes (including intrafamilial variability) are heritable factors and environmental effects. Family studies have first suggested that the variation in expression seen in the majority of NF1 families may be caused by the influence of modifier genes unlink to the NF1 locus. Recent targeted gene strategies have allowed the identification of relevant candidates and the genomic revolution may lead to dramatic progress.

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Authors and Affiliations

  1. Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, UMR745 INSERM, Université Paris Descartes, Paris, 75006, France

    Eric Pasmant & Dominique Vidaud

  2. Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin, AP-HP, 75014, Paris, France

    Eric Pasmant & Dominique Vidaud

  3. Département of Dermatologie, Centre de référence des neurofibromatoses, Hôpital Henri-Mondor, AP-HP and EA 4393 LIC, Université Paris Est Créteil (UPEC), 94000, Créteil, France

    Pierre Wolkenstein

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  1. Eric Pasmant
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  2. Dominique Vidaud
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  3. Pierre Wolkenstein
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Correspondence to Eric Pasmant .

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Editors and Affiliations

  1. School of Medicine, Institute of Medical Genetics, Cardiff University, Heath Park Campus, Cardiff, 144XN, United Kingdom

    Meena Upadhyaya

  2. School of Medicine, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, United Kingdom

    David N. Cooper

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Pasmant, E., Vidaud, D., Wolkenstein, P. (2012). Modifier Genes in NF1. In: Upadhyaya, M., Cooper, D. (eds) Neurofibromatosis Type 1. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-32864-0_18

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