Abstract
Purpose
Neurofibromatosis–Noonan syndrome is a rare autosomal dominant disorder which combines neurofibromatosis type 1 (NF1) features with Noonan syndrome. NF1 gene mutations are reported in the majority of these patients.
Method
Sequence analysis of the established genes for Noonan syndrome revealed no mutation; a heterozygous NF1 point mutation c.7549C>T in exon 51, creating a premature stop codon (p.R2517X), had been demonstrated.
Result
Neurofibromatosis–Noonan syndrome recently has been considered a subtype of NF1 and caused by different NF1 mutations.
Conclusion
We report the case of a 14-year-old boy with neurofibromatosis type 1 with Noonan-like features, who complained of headache with triventricular hydrocephaly and a heterozygous NF1 point mutation c.7549C>T in exon 51.
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Yimenicioğlu, S., Yakut, A., Karaer, K. et al. A new nonsense mutation in the NF1 gene with neurofibromatosis–Noonan syndrome phenotype. Childs Nerv Syst 28, 2181–2183 (2012). https://doi.org/10.1007/s00381-012-1905-7
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DOI: https://doi.org/10.1007/s00381-012-1905-7