title: Deletions spanning the neurofibromatosis type 1 gene: implications for genotype-phenotype correlations in neurofibromatosis type 1?
abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by abnormalities of tissues predominantly derived from the neural crest. Symptoms are highly variable and severity cannot be predicted, even within families. DNA of 84 unrelated patients with NF1, unselected for clinical features or severity, were screened with intragenic polymorphic repeat markers and by Southern analysis with cDNA probes. Deletions of the entire gene were detected in five patients from four unrelated families. Their phenotype resembled that of five previously reported patients with deletions, including intellectual impairment and dysmorphic features, but without an excessive number of dermal neurofibromas. This report supports the hypothesis that large deletions spanning the entire NF1 gene may lead to a specific phenotype.
authors.affiliation: Department of Pediatrics, Erasmus University, Rotterdam, The Netherlands.
authors.forename: M H
authors.initials: MH
authors.lastname: Cnossen
authors.forename: M N
authors.initials: MN
authors.lastname: van der Est
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: C J
authors.initials: CJ
authors.lastname: van Asperen
authors.forename: E J
authors.initials: EJ
authors.lastname: Breslau-Siderius
authors.forename: A T
authors.initials: AT
authors.lastname: van der Ploeg
authors.forename: A
authors.initials: A
authors.lastname: de Goede-Bolder
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
mesh_terms: D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002648:Child; D004276:DNA, Satellite; D005260:Female; D017353:Gene Deletion; D016514:Genes, Neurofibromatosis 1; D018392:Genomic Imprinting; D005838:Genotype; D006801:Humans; D008297:Male; D010641:Phenotype
chemical_list: D004276:DNA, Satellite