Absence of exon 17 c.2970-2872delAAT mutation in Turkish NF1 patients with mild phenotype
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Yunus Kasim Terzi , Burcu Sirin , Esra Serdaroglu , Banu Anlar , Sabiha Aysun , Guzen Hosgor , Elif Acar Arslan , Sukriye Ayter
- چاپ و سال / کشور: 2011
Description
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.
Childs Nerv Syst DOI 10.1007/s00381-011-1512-z Received: 7 March 2011 / Accepted: 13 June 2011
