A Novel Mutation in Neurofibromatosis 1 (Case Report)

Neurofibromatosis 1 (NF1) is the most common inheritable disease with estimated birth incidence of 1:3,000. Neurofibromatosis 1 is an autosomal dominant inherited disorder caused by germ line mutations in the NF1 tumor suppressor gene located on chromosome 17q11.2. NF1 (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic neural crest. Further, this disorder is characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Methods:A 31 year-old lady with clinical presentation of Neurofibromatosis referred to Biogene Clinical and Genetics Laboratory in 2016. She had a positive family history of the disease including her father and some other members in the pedigree. Blood sample was obtained then Nimblegen chip capturing the genes of NF1 and NF2 followed by Next Generation Sequencing was conducted.Results: New likely pathogenic mutation (c.1261-2A> G, Het) on NF1 gene of the sample has been detected.Conclusions: Although c.1261-2A> G mutation has not been reported previously, the frequencies of it in normal population are very low, and the splice mutation is expected to affect the mRNA’s splicing. The splice mutation c.1261-2A> G on NF1 gene, is possible to be the pathogenic mutation of the sample which is consistent with the clinical diagnosis. Another variant identified in NF1 gene of this patient was c.289-7A> G mutation in a heterozygous state.

کلیدواژه ها:

Neurofibromatosis 1 ، NF1 Mutation ، next generation sequencing (NGS)