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• W3096169641 abstract "Molecular testing, as part of genetic counseling, is strongly recommended to offer a guided diagnosis and management of genetic diseases to the patients and their families. For example, NF-1. Other indications for molecular testing in genetics include patients who wish to confirm a clinical diagnosis or with an atypical presentation of the syndrome and patients with the need for prenatal or preimplantation diagnosis.Neurofibromatosis 1 (NF1) is an autosomal dominant disorder caused by mutations of NF1 gene with a broad spectrum of clinical characteristics, the disease is suggested by the presence of multiple cafe-au-lait spots, neurofibromas, inguinal freckling, iris hamartomas, tumors or skeletal abnormalities, learning disabilities are present in 50% of the patients. Individuals are variably affected, not only between families but also inside the same family, and even the same person during his or her lifetime can have very different clinical evolution. Genetically, the disease is also heterogenic, with observed mutations in the NF1 gene include stop mutations, amino acid substitutions, insertions, deletions (partial or whole), and gross chromosomal rearrangements; besides, 50% of the patients have de novo mutations. Diagnosis of the disease is based on clinical criteria specified by NIH that are specific and sensitive in adults or children with a family history of the disease, but only 50% of children with no family history of NF1 meet clinical criteria for diagnosis by the age of 1 year ; thus, NF1 is the most common syndrome associated with cafe au lait spots in children and although the presence of them on children without a family history of NF1 is highly suggestive of Neurofibromatosis. Molecular diagnosis of NF1 has existed for a long time. Recently next-generation sequencing (NGS) technologies have been incorporated for the diagnosis of this and other diseases to provide less expensive and faster identification of mutations. Detecting mutations on NF1 is challenging, and current protocols combine complementary methods for detection of minor changes as single-base substitutions, insertions and deletions, exon deletions or duplications, and microdeletions or complete gene deletions.Fluorescent in situ hybridization (FISH), chromosomal microarray analysis (CMA) and cytogenetic analysis (karyotyping) can be used to detect gross mutations like whole and large scale gene deletions, duplications or rearrangements, however, these methodologies detect only the 2 to 5%, 5% and less than 1% of all mutations on NF1, respectively. Other methodologies can also detect some of these mutations. The minor changes as single-base substitutions, insertions and deletions can be detected with Single-strand conformation polymorphism (SSCP) and sequence analysis through Next-generation sequencing (NGS) a procedure that can use genomic DNA or complementary DNA (cDNA) with three modalities that include whole genomic DNA, targeted or exome sequencing; the Denaturing high-performance liquid chromatography (DHPLC) is useful for detection of small deletions and duplications too; the extension of the deletions and duplications detected by MLPA (Multiplex ligation-dependent probe amplification) is in some way in between of those identified by FISH or cytogenetic analysis and HPLC, i.e., MLPA is useful for detection of complete or single and multiexon deletions or duplications. As has been explained before, any of these methodologies cannot efficiently detect all NF1 gene mutations, but there are reports of multistep mutation detection protocols with a sensitivity of up to 95% have been reported. In the protocol reported by Valero et al., the first step consisted on the identification of complete or partial NF1 gene deletions and duplications using MLPA, when samples were negative for this test, a second-tier applied HPLC to cDNA to detect splice mutations, small deletion/duplications and; as part of the second tier, a region of the NF1 gene was analyzed from genomic DNA, since the intrinsic characteristics of the mRNA sequence, a high GC content, make difficult the amplification of cDNA. The third step on this analysis focuses on identifying, through a haplotype analysis, which of the found mutations were potentially pathogenic, since mutations can also be non-pathogenic variants; all mutations identified at every step had confirmation with Sanger sequencing.Molecular testing of NF1 constitutes a good example to explain the theoretical basis on a tier-based protocol, in the next sections, this article will discuss FISH, MLPA, DHPLC as components of a tiered-protocol and briefly explain the differences between gene-targeted, exome and whole NGS that have used isolated or as part of tiered protocols in the diagnosis of NF1 and other diseases." @default.
• W3096169641 created "2020-11-09" @default.
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• W3096169641 date "2020-07-21" @default.
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• W3096169641 title "Genetics, Molecular Testing" @default.
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