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MOLECULAR DIAGNOSIS AS A STRATEGY FOR DIFFERENTIAL DIAGNOSIS AND AT EARLY AGES OF NEUROFIBROMATOSIS TYPE 1 (NF1)

dc.contributorCentro Gendiagnostik, SNI, Secretaría Nacional de Ciencia Tecnología e Innovación y Vicerrectoría de Investigación y Posgradoes-ES
dc.contributoren-US
dc.creatorGómez, Martha; Universidad Autonóma de Chiriquí
dc.creatorBatista, Oriana; Universidad Autonóma de Chiriquí y Centro Gendiagnostik, SA
dc.date2015-09-23
dc.date.accessioned2019-11-11T18:28:22Z
dc.date.available2019-11-11T18:28:22Z
dc.identifierhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4026
dc.identifier.urihttps://revistaschilenas.uchile.cl/handle/2250/111573
dc.descriptionNeurofibromatosis type 1 (NF1), is a haploinsufficient and multisystemic disease, caused by inherited or sporadic mutations in the NF1 gene. Its incidence is one in 2500 to 3000 individuals, it has an autosomal dominant pattern of inheritance, high clinical variability, complete penetrance and age-dependent complications. Neurofibromin is the product of the NF1 gene and is believed to act as a tumor suppressor since the loss of its function has been associated with benign and malignant tumors in neural crest-derived tissues. Only two correlations between clinical phenotype and mutant alleles in the NF1 gene have been observed. The established criteria for disease diagnosis are very efficient in adults and children older than 3 years of age, but not for children under this age. Mutational analysis is therefore recommended to confirm the disease in young children with a negative family history. A pathogenic mutation in the NF1 should be added to the list of diagnostic criteria. Mutational analysis is also recommended for differential diagnosis and for prenatal or pre-implantation genetic diagnosis, taking into consideration the family history and the type of method to be applied. Molecular studies of this disease using different complimentary molecular techniques and bioinformatics tools have characterized NF1 gene mutations at both the DNA and mRNA levels, increasing the mutational spectrum. Consequently, about 1289 defects have been reported to date, mainly nonsense/missense mutations, deletions and splice site defects.es-ES
dc.descriptionNeurofibromatosis type 1 (NF1), is a haploinsufficient and multisystemic disease, caused by inherited or sporadic mutations in the NF1 gene. Its incidence is one in 2500 to 3000 individuals, it has an autosomal dominant pattern of inheritance, high clinical variability, complete penetrance and age-dependent complications. Neurofibromin is the product of the NF1 gene and is believed to act as a tumor suppressor since the loss of its function has been associated with benign and malignant tumors in neural crest-derived tissues. Only two correlations between clinical phenotype and mutant alleles in the NF1 gene have been observed. The established criteria for disease diagnosis are very efficient in adults and children older than 3 years of age, but not for children under this age. Mutational analysis is therefore recommended to confirm the disease in young children with a negative family history. A pathogenic mutation in the NF1 should be added to the list of diagnostic criteria. Mutational analysis is also recommended for differential diagnosis and for prenatal or pre-implantation genetic diagnosis, taking into consideration the family history and the type of method to be applied. Molecular studies of this disease using different complimentary molecular techniques and bioinformatics have characterized NF1 gene mutations at both the DNA and mRNA levels, increasing the mutational spectrum. Consequently, about 1289 defects have been reported to date, mainly nonsense/missense mutations, deletions and splice site defects.en-US
dc.formatapplication/pdf
dc.languagespa
dc.publisherRevista Médica de Chilees-ES
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/view/4026/1539
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4026/16939
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4026/17322
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4026/16937
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4026/19222
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4026/19223
dc.relationhttp://www.revistamedicadechile.cl/ojs/index.php/rmedica/article/downloadSuppFile/4026/19224
dc.sourceRevista Médica de Chile; Vol. 143, núm. 10 (2015): OCTUBRE 2015es-ES
dc.source0034-9887
dc.subjectChild; Computational Biology; DNA Mutational Analysis; Neurofibromatosis 1; Neurofibromin 1es-ES
dc.subjectChild; Computational Biology; DNA Mutational Analysis; Neurofibromatosis 1; Neurofibromin 1en-US
dc.titleNeurofibromatosis tipo 1 (NF1) y su diagnóstico molecular como estrategia del diagnóstico diferencial y a edades tempranas.es-ES
dc.titleMOLECULAR DIAGNOSIS AS A STRATEGY FOR DIFFERENTIAL DIAGNOSIS AND AT EARLY AGES OF NEUROFIBROMATOSIS TYPE 1 (NF1)en-US
dc.typeinfo:eu-repo/semantics/article
dc.typeinfo:eu-repo/semantics/publishedVersion
dc.typees-ES


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