Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome.

Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.

From the Contents: von Recklinghausen disease

Clinical diagnosis and atypical cases
Management and treatment of NF1: complex UK NF1 clinics
Mortality in NF1
The cognitive profile of NF1 children, therapeutic implications
Clinical expression of NF1 in monozygotic twins
Whole body MRI studies in NF1 patients
Quality of Life in NF1
NF1 gene: promoter, 3'UTR and complex features
Germline mutational spectrum of NF1 and Genotype-Phenotype Correlations
Splicing mechanisms and mutations in the NF1 gene
NF1 Germline and somatic mosaicism
Deep intronic NF1 mutations and possible therapeutic interventions
NF1 microdeletions and mutational mechanisms
NF1 somatic mutational spectrum
Social Stigma in NF1
Personalized Medicine in NF1
Future Directions - Where do we go from here.