{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T11:53:39Z","timestamp":1790855619111,"version":"4.1.0"},"reference-count":36,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2008,2,8]],"date-time":"2008-02-08T00:00:00Z","timestamp":1202428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The majority of neurofibromatosis type 1 (<jats:italic>NF1<\/jats:italic>) microdeletions in 17q11.2 span \u223c1.4 Mb and have breakpoints that lie within the proximal and distal NF1\u2010low copy repeats, termed NF1\u2010REPs. Less frequent are patients with atypical deletions and non\u2010recurring breakpoints. NF1 patients with gross deletions have been reported to manifest a more severe clinical phenotype than NF1 patients with intragenic mutations, and display early onset and extensive growth of neurofibromas. It has been suggested that the deletion of a neighboring gene or genes in addition to the <jats:italic>NF1<\/jats:italic> gene may modify the expression of the disease, particularly with regard to the high burden of cutaneous neurofibromas. Thus, atypical deletions partially overlapping with the common 1.4 Mb microdeletion interval could prove useful in identifying possible genetic modifiers in the <jats:italic>NF1<\/jats:italic> gene region whose haploinsufficiency might promote neurofibroma growth. Here we report a 20\u2010year\u2010old female who has an atypical deletion with a proximal breakpoint in <jats:italic>NF1<\/jats:italic> intron 21 and a distal deletion breakpoint in the <jats:italic>ACCN1<\/jats:italic> gene. The deletion spans 2.7 Mb and was mediated by an intrachromosomal non\u2010homology\u2010driven mechanism, for example, non\u2010homologous end\u2010joining (NHEJ). Remarkably, this patient did not exhibit cutaneous neurofibromas. However, genotype\u2013phenotype comparisons in this and other previously reported patients with atypical deletions partially overlapping the commonly deleted 1.4 Mb interval do not identify a specific deleted region that is associated with increased neurofibroma growth. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32045","type":"journal-article","created":{"date-parts":[[2008,2,8]],"date-time":"2008-02-08T19:46:47Z","timestamp":1202500007000},"page":"691-699","source":"Crossref","is-referenced-by-count":20,"title":["Absence of cutaneous neurofibromas in an NF1 patient with an atypical deletion partially overlapping the common 1.4 Mb microdeleted 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