By Vincent M. Riccardi (auth.), Meena Upadhyaya, David N. Cooper (eds.)
Neurofibromatosis sort 1 (NF1), as a result of mutational inactivation of the NF1 tumour suppressor gene, is likely one of the most typical dominantly inherited human issues, affecting 1 in 3000 members around the world. This ebook provides in concise model, yet as comprehensively as attainable, our present nation of information at the molecular genetics, molecular biology and mobile biology of this tumour predisposition syndrome.
Written by way of the world over famous specialists within the box, the forty four chapters that represent this edited quantity give you the reader with a extensive evaluation of the medical gains of the illness, the constitution and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the constitution and serve as of its protein product (neurofibromin), NF1 editing loci, the molecular pathology of NF1-associated tumours, animal types of the illness, psycho-social elements and destiny clients for healing treatment.
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Additional resources for Neurofibromatosis Type 1: Molecular and Cellular Biology
5 Syndromes with multiple tumors Tumor type Neural tumors Syndrome NF2 (MIM 101000) Clinical finding Schwannomas: cutaneous, intradermal, subcutaneous, and bilateral vestibular. Neurofibromas may be found. c Lipomas, fibromas, desmoid tumors, osteomas, (Gardner syndrome) FAP (MIM 175100) Overgrowth Proteus syndrome Asymmetric overgrowth in limbs. Linear syndromes (MIM 176920) verrucous epidermal nevus, connective tissue nevus typically on the sole of the foot, a few small cafe´au-lait maculesd Klippel–Tre´naunay–Weber Cutaneous capillary malformations (port(MIM 149000) wine stain), varicose veins, or venous malformations, and bony or soft tissue hyperplasia of an extremity Congenital generalized Multiple fibroblastic tumors of various fibromatosis tissues (MIM 228550) a Blumenthal and Dennis (2008).
They occur in about 15 % of children with NF1 (Listernick et al. 1994). Most optic gliomas appear during the first years of life but appearance in adolescence or adulthood is possible. The risk of developing a symptomatic optic glioma is greatest in children under 7 years, the mean age of diagnosis being 5 years (Nicolin et al. 2009). The most common symptoms caused by optic gliomas and leading to MRI are decreased visual acquity, proptosis, and headaches combined with vomiting. Optic glioma may also cause precocious puberty by interfering with the pituitary gland.
Am J Clin Dermatol 11:117–122. Listernick R, Charrow J, Greenwald M, Mets M (1994) Natural history of optic pathway tumors in children with neurofibromatosis type 1: a longitudinal study. J Pediatr 125:63–66 Listernick R, Ferner RE, Liu GT, Gutmann DH (2007) Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations. Ann Neurol 61:189–198. Lodish MB, Stratakis CA (2011) The differential diagnosis of familial lentiginosis syndromes. Fam Cancer 10:481–490. Messiaen L, Riccardi V, Peltonen J, Maertens O, Callens T, Karvonen SL, Leisti E-L, Koivunen J, Vanderbroucke I, Stephens K, Po¨yho¨nen M (2003) Independent NF1 mutations in two large families with spinal neurofibromatosis.
Neurofibromatosis Type 1: Molecular and Cellular Biology by Vincent M. Riccardi (auth.), Meena Upadhyaya, David N. Cooper (eds.)