caa a22 4500 445364572 CHVBK 20180317142925.0 cr unu---uuuuu 170323e20110801xx s 000 0 eng 10.1007/s10048-011-0278-5 doi (NATIONALLICENCE)springer-10.1007/s10048-011-0278-5 Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion [Elektronische Daten] [Antonio Pizzuti, Irene Bottillo, Francesca Inzana, Valentina Lanari, Francesca Buttarelli, Isabella Torrente, Anna Giallonardo, Alessandro De Luca, Bruno Dallapiccola] We report the detailed clinical presentation and molecular features of a spinal neurofibromatosis familial case where a 40-year-old woman, presenting with multiple bilateral spinal neurofibromas and no other clinical feature of neurofibromatosis type 1 (NF1), inherited a paternal large multiexonic deletion (c.5944−?_7126+?del) which resulted in NF1 gene haploinsufficiency at the RNA level. In the clinically unaffected 73-year-old father, spinal cord MRI disclosed bilateral and symmetrical hypertrophy of spinal lumbosacral roots. Our study widens the phenotypic and mutational spectrum of NF1 and illustrates the difficulties of counseling patients with border-line or atypical presentation of this disorder. Springer-Verlag, 2011 FSNF nationallicence HSNF nationallicence NF1 nationallicence Spinal neurofibromas nationallicence Neurofibromatosis type 1 nationallicence Pizzuti Antonio Department of Experimental Medicine, "Sapienza” University, Rome, Italy aut Bottillo Irene IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut Inzana Francesca IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut Lanari Valentina IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut Buttarelli Francesca Department of Neurology and Psychiatry, "Sapienza” University, Rome, Italy aut Torrente Isabella IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut Giallonardo Anna Department of Neurological Sciences, University of Rome "Sapienza”, Rome, Italy aut De Luca Alessandro IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut Dallapiccola Bruno Bambino Gesù Children Hospital, IRCCS, Rome, Italy aut neurogenetics Springer-Verlag 12/3(2011-08-01), 233-240 1364-6745 12:3<233 2011 12 10048 https://doi.org/10.1007/s10048-011-0278-5 text/html Onlinezugriff via DOI 1 brief-communication jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10048-011-0278-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Pizzuti Antonio Department of Experimental Medicine, "Sapienza” University, Rome, Italy aut NATIONALLICENCE 700 1- Bottillo Irene IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Inzana Francesca IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Lanari Valentina IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Buttarelli Francesca Department of Neurology and Psychiatry, "Sapienza” University, Rome, Italy aut NATIONALLICENCE 700 1- Torrente Isabella IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Giallonardo Anna Department of Neurological Sciences, University of Rome "Sapienza”, Rome, Italy aut NATIONALLICENCE 700 1- De Luca Alessandro IRCCS Casa Sollievo della Sofferenza, Mendel Laboratory, San Giovanni Rotondo, Italy aut NATIONALLICENCE 700 1- Dallapiccola Bruno Bambino Gesù Children Hospital, IRCCS, Rome, Italy aut NATIONALLICENCE 773 0- neurogenetics Springer-Verlag 12/3(2011-08-01), 233-240 1364-6745 12:3<233 2011 12 10048 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer