SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype

Eric Pasmant (1, 2) , Audrey Sabbagh (1, 2) , Nadine Hanna (1, 2) , Julien Masliah-Planchon (2) , Emilie Jolly (2) , Philippe Goussard (2) , Paola Ballerini (3) , François Cartault (4) , Sébastien Barbarot (5) , Judith Landman-Parker (3) , Nadem Soufir (6) , Béatrice Parfait (1) , Michel Vidaud (1) , Pierre Wolkenstein (7) , Dominique Vidaud (1)

1 Inserm U745 - Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux
2 Service de Biochimie et Génétique Moléculaire
3 CHU Trousseau [APHP]
4 Service de génétique
5 Service de dermatologie [Nantes]
6 Service de biochimie hormonale, métabolique et génétique
7 Service de dermatologie [Mondor]

Germline loss-of-function mutations in the gene have recently been identified in patients fulfilling the National Institutes of Health (NIH) diagnostic criteria for neurofibromatosis type 1 (NF1) but with no (neurofibromin 1) mutation found, suggesting a neurofibromatosis type 1-like syndrome.

Mots clés: Molecular genetics

Eric Pasmant, Audrey Sabbagh, Nadine Hanna, Julien Masliah-Planchon, Emilie Jolly, et al.. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. Journal of Medical Genetics, 2009, 46 (7), pp.425. ⟨10.1136/jmg.2008.065243⟩. ⟨hal-00552683⟩