Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion.
Neurogenetics
; 12(3): 233-40, 2011 Aug.
Article
en En
| MEDLINE
| ID: mdl-21365283
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Nervios Espinales
/
Genes de Neurofibromatosis 1
/
Neurofibromatosis
/
Eliminación de Gen
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Italia