Abstract
Introduction
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT mutation, has been associated with a milder phenotype of NF1 manifesting with pigmentary skin changes only.
Materials and methods
We therefore analyzed 35 NF1 patients without neurofibromas, learning problems, or bone lesions (19 familial, 16 sporadic, age 7–44 years) for exon 17 mutations by DNA sequencing.
Results
We did not find the c.2970-2972 delAAT mutation in this group but identified two base changes in exon 17 (c.2989A>G and c.2894T>A), whether these two novel mutations are related to a mild phenotype remains to be confirmed in further studies. Our results suggest the reported phenotypic associations may not be valid for all populations.
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Acknowledgments
The authors would like to thank to all the families who participated in this work. This study was supported by Hacettepe University Scientific Research Foundation (06 01 101 021).
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Terzi, Y.K., Sirin, B., Serdaroglu, E. et al. Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype. Childs Nerv Syst 27, 2113–2116 (2011). https://doi.org/10.1007/s00381-011-1512-z
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DOI: https://doi.org/10.1007/s00381-011-1512-z