title: Advances in Molecular Diagnosis of Neurofibromatosis Type 1.
abstract: Neurofibromatosis 1 (NF1) is a common neurocutaneous and tumor predisposing genetic disorder with an autosomal dominant mode of inheritance. NF1 is solely caused by mutations in the NF1 gene, and disease-causing mutations can be found in more than 95% of individuals with a clinical diagnosis. Although NF1 has a distinctive clinical phenotype, it has a highly variable expression, even among individuals from the same family. Identifying the specific mutation does not usually assist in determining disease course and severity, and relatively few genotype-phenotype correlations have thus far been found. This review discusses the basic clinical aspects of NF1 and the current explanations for the high phenotypic variability, and provides the recently detected genotype-phenotype correlations.
authors.affiliation: (⁎)Division of Neurosurgery, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Ben
authors.initials: B
authors.lastname: Shofty
authors.affiliation: (⁎)Division of Neurosurgery, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Department of Pediatric Neurosurgery, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
authors.forename: Shlomi
authors.initials: S
authors.lastname: Constantini
authors.affiliation: Gilbert Israeli Neurofibromatosis Center, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel; Genetic Institute, Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel. Electronic address: shayb@tlvmc.gov.il.
authors.forename: Shay
authors.initials: S
authors.lastname: Ben-Shachar
mesh_terms: D005817:Genetic Counseling; D006801:Humans; D025202:Molecular Diagnostic Techniques; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology