A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands

NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro‐cardio‐facio‐cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm a clinical diagnosis NF1. This report describes the clinical and genetic findings o...

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Bibliographic Details
Published in:Clinical genetics 2014-04, Vol.85 (4), p.318-327
Main Authors: van Minkelen, R., van Bever, Y., Kromosoeto, J.N.R., Withagen-Hermans, C.J., Nieuwlaat, A., Halley, D.J.J., van den Ouweland, A.M.W.
Format: Article
Language:English
Subjects:
(prenatal) molecular diagnostics
Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
clinical
DNA Mutational Analysis
Female
genetic
Genetic Association Studies
Humans
Infant
Male
Middle Aged
Mutation
Netherlands
Neurofibromatosis 1 - diagnosis
Neurofibromatosis 1 - etiology
Neurofibromatosis 1 - genetics
neurofibromatosis type 1
Neurofibromin 1 - genetics
Pedigree
the Netherlands
Young Adult
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Summary:NF1 mutations are the underlying cause of neurofibromatosis type 1 (NF1), a neuro‐cardio‐facio‐cutaneous syndrome (NCFC). Because of the clinical overlap between NCFCs, genetic analysis of NF1 is necessary to confirm a clinical diagnosis NF1. This report describes the clinical and genetic findings of 18 years of NF1 molecular diagnostics in the Netherlands. A pathogenic mutation was found in 59.3% (1178/1985) of the index patients, mostly de novo (73.8%). The majority of the index patients (64.3%) fulfilled the National Institute of Health NF1 criteria, a pathogenic mutation was found in 80.9% of these patients. Seventy‐four percent of the index patients with an NF1 pathogenic mutation and not fulfilling the NF1 criteria is
ISSN:0009-9163
1399-0004
DOI:10.1111/cge.12187