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10.1111/cge.12187

http://scihub22266oqcxt.onion/10.1111/cge.12187
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23656349!ä!23656349

suck abstract from ncbi


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pmid23656349      Clin+Genet 2014 ; 85 (4): 318-27
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  • A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands #MMPMID23656349
  • van Minkelen R; van Bever Y; Kromosoeto JN; Withagen-Hermans CJ; Nieuwlaat A; Halley DJ; van den Ouweland AM
  • Clin Genet 2014[Apr]; 85 (4): 318-27 PMID23656349show ga
  • 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 <12 years, in agreement with the fact that some NF1 symptoms appear after puberty. Genotype-phenotype correlations were studied for 527 index patients. NF1 patients with a type 1 microdeletion have a sixfold higher risk of special education vs NF1 patients with an intragenic mutation. No evidently milder NF1 phenotype for patients with a missense mutation was observed. Forty-six prenatal analyses were performed in 28 (2.4%) families, of which 29 (63%) showed heterozygosity for the familial pathogenic mutation. This indicates that there is a need for prenatal NF1 testing.
  • |*Mutation[MESH]
  • |Adolescent[MESH]
  • |Adult[MESH]
  • |Aged[MESH]
  • |Aged, 80 and over[MESH]
  • |Child[MESH]
  • |Child, Preschool[MESH]
  • |DNA Mutational Analysis[MESH]
  • |Female[MESH]
  • |Genetic Association Studies[MESH]
  • |Humans[MESH]
  • |Infant[MESH]
  • |Male[MESH]
  • |Middle Aged[MESH]
  • |Netherlands[MESH]
  • |Neurofibromatosis 1/*diagnosis/etiology/*genetics[MESH]
  • |Neurofibromin 1/genetics[MESH]
  • |Pedigree[MESH]


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