An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

• Published in: American journal of human genetics Vol. 80; no. 1; pp. 140 - 151
• Main Authors: Upadhyaya, M., Huson, S.M., Davies, M., Thomas, N., Chuzhanova, N., Giovannini, S., Evans, D.G., Howard, E., Kerr, B., Griffiths, S., Consoli, C., Side, L., Adams, D., Pierpont, M., Hachen, R., Barnicoat, A., Li, H., Wallace, P., Van Biervliet, J.P., Stevenson, D., Viskochil, D., Baralle, D., Haan, E., Riccardi, V., Turnpenny, P., Lazaro, C., Messiaen, L.
• Format: Journal Article
• Language: English
• Published: Chicago, IL Elsevier Inc 01.01.2007; University of Chicago Press; Cell Press; The American Society of Human Genetics
• Subjects: Adolescent; Adult; Biological and medical sciences; Child; Exons; Female; Fundamental and applied biological sciences. Psychology; Gene expression; General aspects. Genetic counseling; Genetics of eukaryotes. Biological and molecular evolution; Genotype; Genotype & phenotype; Humans; Male; Medical genetics; Medical sciences; Middle Aged; Molecular and cellular biology; Mutation; Neurofibroma - genetics; Neurofibromatosis 1 - genetics; Neurofibromin 1 - genetics; Neurology; Pedigree; Phenotype; Sequence Analysis, DNA; Sequence Deletion; Skin Neoplasms - genetics; Studies; Tumors of the nervous system. Phacomatoses; Chromosomal aberration; Human; Skin disease; Nervous system diseases; Correlation; Typing; Phacomatosis; Genotype; Neurofibromatosis Recklinghausen; Genetic disease; Phenotype; Association; Exon; Gene; Central nervous system disease; Deletion; Genetics; Benign neoplasm; Neurofibroma

Neurofibromatosis type 1 (NF1) is characterized by café-au-lait spots, skinfold freckling, and cutaneous neurofibromas. No obvious relationships between small mutations (<20 bp) of the NF1 gene and a specific phenotype have previously been demonstrated, which suggests that interaction with either...