6533b820fe1ef96bd1279cbc
RESEARCH PRODUCT
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform
Gaetano TortorellaTeresa MattinaAngelo SelicorniMaria Grazia FiguraGiuseppa Maria Luana MandaràGiuseppa RuggeriAnna CeredaAlda RagalmutoCorrado RomanoMaria BonsignoreMaria SpanòDaniela PalazzoAntonino SaporosoCarmelo SchepisPinella FaillaFrancesco CalìValentino RomanoRoberto SalluzzoMaria PiccioneV. ChiavettaGiovanni SorgeSilvia MaitzMartino RuggieriMaurizio EliaAgata Fiumarasubject
Male0301 basic medicineDNA Mutational Analysismedicine.disease_causeChildGenetics (clinical)Sanger sequencingGeneticsMutationNeurofibromin 1biologyMosaicismCafe-au-Lait SpotsNeurofibromatosis type 1; Legius's syndrome; Next generation sequencingGeneral MedicineMiddle AgedItalyChild PreschoolsymbolsMedical geneticsFemalemedicine.symptomHumanAdultmedicine.medical_specialtyNeurofibromatosis 1AdolescentPseudogeneDNA Mutational Analysi03 medical and health sciencessymbols.namesakeGeneticNext generation sequencingCafé au lait spotSkin AbnormalitieGeneticsmedicineHumansCafe-au-Lait SpotNeurofibromatosisLegius's syndromeInfantSequence Analysis DNAIon semiconductor sequencingmedicine.diseaseNeurofibromin 1030104 developmental biologyMutationSkin Abnormalitiesbiology.proteinNeurofibromatosis type 1description
Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classified using âAmerican College of Medical Genetics and Genomicsâ guidelines criteria, thus enabling the classification of 96% of the variants identified as being pathogenic. The use of Next Generation Sequencing has proven to be effective as for costs, and time for analysis, and it allowed us to identify a patient with NF1 mosaicism. Furthermore, we designed a new approach aimed to quantify the mosaicism percentage using electropherogram of capillary electrophoresis performed on Sanger method.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2017-02-01 | European Journal of Medical Genetics |