التفاصيل البيبلوغرافية
| العنوان: |
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands. |
| المؤلفون: |
van Minkelen, R.1, van Bever, Y.1, Kromosoeto, J.N.R.1, Withagen‐Hermans, C.J.1, Nieuwlaat, A.1, Halley, D.J.J.1, van den Ouweland, A.M.W.1 |
| المصدر: |
Clinical Genetics. Apr2014, Vol. 85 Issue 4, p318-327. 10p. |
| مصطلحات موضوعية: |
*NEUROFIBROMATOSIS 1, *GENETIC mutation, *MOLECULAR diagnosis, *GENETIC research, *HETEROZYGOSITY |
| مصطلحات جغرافية: |
NETHERLANDS |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
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