2008
DOI: 10.1002/humu.20826
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Nature and mRNA effect of 282 differentNF1point mutations: focus on splicing alterations

Abstract: Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder caused by mutations in the NF1 gene. In this paper we report our experience using the cDNA-SSCP/HD analysis as a mutational screening approach and the double characterization of all mutations at the DNA and RNA levels. Two hundred and eighty-two different mutations (in 374 independent patients) were identified, 140 of which were novel in our population. Most of these mutations are unique and distributed along the gene. However, we a… Show more

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Cited by 107 publications
(93 citation statements)
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“…For example, BRCA2 substitutions deposited in BIC and screened by RT-PCR and minigene assays did not show a single example of aberrant splicing [Whiley et al, 2010]. On the other hand, more systematic studies [Sanz et al, 2010] confirm previous findings [Pros et al, 2008;Teraoka et al, 1999] that in large genes with many introns up to a half of all disease gene mutations affect splicing, although only a few were in exons. For example, 2 of four exonic unclassified variants in BRCA2 showed aberrant splicing [Bonnet et al, 2008].…”
Section: Discussionsupporting
confidence: 61%
“…For example, BRCA2 substitutions deposited in BIC and screened by RT-PCR and minigene assays did not show a single example of aberrant splicing [Whiley et al, 2010]. On the other hand, more systematic studies [Sanz et al, 2010] confirm previous findings [Pros et al, 2008;Teraoka et al, 1999] that in large genes with many introns up to a half of all disease gene mutations affect splicing, although only a few were in exons. For example, 2 of four exonic unclassified variants in BRCA2 showed aberrant splicing [Bonnet et al, 2008].…”
Section: Discussionsupporting
confidence: 61%
“…2014) This difference could be due to the cohort of novel mutations or our DNA‐based protocol; RNA studies reveal that new missense and new silent mutations could alter correct splicing if they fall at consensus sites (Pros et al. 2008). Only 2 of the 15 novel missense alterations were identified by the RNA approach.…”
Section: Discussionmentioning
confidence: 99%
“…The strength of the pseudoexon splice sites was analyzed using three different prediction programs: www.fruitfly.org/seq_tools/splice.html, http://genes.mit.edu/burgelab/maxent/ Xmaxentscan_scoreseq.html and http://ast.bioinfo.tau.ac.il/SpliceSiteFrame.html, as previously described. 31 Putative binding sites for transcription factors were identified using PROMO 3.0, a web-based program that employs the TRANSFAC database version 8.3 to construct specific binding-site weight matrices for prediction of transcription factor-binding sites. 32,33 Relative telomere length assessment…”
Section: Spainmentioning
confidence: 99%