{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:27:14Z","timestamp":1760149634189,"version":"build-2065373602"},"reference-count":41,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T00:00:00Z","timestamp":1693526400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union","award":["739593"],"award-info":[{"award-number":["739593"]}]},{"name":"TKP2021-EGA-24","award":["739593"],"award-info":[{"award-number":["739593"]}]},{"name":"TKP2021-NVA-15","award":["739593"],"award-info":[{"award-number":["739593"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Neurofibromatosis type 1 (NF1) is a clinically heterogeneous neurocutaneous disorder inherited in autosomal dominant manner. Approximately 5\u201310% of the cases are caused by NF1 microdeletions involving the NF1 gene and its flanking regions. Microdeletions, which lead to more severe clinical manifestations, can be subclassified into four different types (type 1, 2, 3 and atypical) according to their size, the genomic location of the breakpoints and the number of genes included within the deletion. Besides the prominent hallmarks of NF1, patients with NF1 microdeletions frequently exhibit specific additional clinical manifestations like dysmorphic facial features, macrocephaly, overgrowth, global developmental delay, cognitive disability and an increased risk of malignancies. It is important to identify the genes co-deleted with NF1, because they are likely to have an effect on the clinical manifestation. Multiplex ligation-dependent probe amplification (MLPA) and microarray analysis are the primary techniques for the investigation of NF1 microdeletions. However, based on previous research, optical genome mapping (OGM) could also serve as an alternative method to identify copy number variations (CNVs). Here, we present a case with NF1 microdeletion identified by means of OGM and demonstrate that this novel technology is a suitable tool for the identification and classification of the NF1 microdeletions.<\/jats:p>","DOI":"10.3390\/ijms241713580","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T08:19:39Z","timestamp":1693556379000},"page":"13580","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of an NF1 Microdeletion with Optical Genome Mapping"],"prefix":"10.3390","volume":"24","author":[{"given":"Gergely","family":"B\u00fcki","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Clinical Center, Medical School, University of P\u00e9cs, 7624 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-2450-0323","authenticated-orcid":false,"given":"Anna","family":"Bek\u0151","sequence":"additional","affiliation":[{"name":"HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0729-692X","authenticated-orcid":false,"given":"Csaba","family":"B\u00f6d\u00f6r","sequence":"additional","affiliation":[{"name":"HCEMM-SE Molecular Oncohematology Research Group, Department of Pathology and Experimental Cancer Research, Semmelweis University, 1085 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4043-3428","authenticated-orcid":false,"given":"P\u00e9ter","family":"Urb\u00e1n","sequence":"additional","affiliation":[{"name":"Bioinformatics Research Group, Genomics and Bioinformatics Core Facility, Szent\u00e1gothai Research Centre, University of P\u00e9cs, 7624 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Krisztina","family":"N\u00e9meth","sequence":"additional","affiliation":[{"name":"Pediatric Center, T\u0171zolt\u00f3 Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2303-1670","authenticated-orcid":false,"given":"Kinga","family":"Hadzsiev","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Clinical Center, Medical School, University of P\u00e9cs, 7624 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6rgy","family":"Fekete","sequence":"additional","affiliation":[{"name":"Pediatric Center, T\u0171zolt\u00f3 Street Department, Faculty of Medicine, Semmelweis University, 1094 Budapest, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3398-5913","authenticated-orcid":false,"given":"Hildegard","family":"Kehrer-Sawatzki","sequence":"additional","affiliation":[{"name":"Institut of Human Genetics, University of Ulm, 89081 Ulm, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5757-6244","authenticated-orcid":false,"given":"Judit","family":"Bene","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Clinical Center, Medical School, University of P\u00e9cs, 7624 P\u00e9cs, Hungary"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1001\/archderm.141.1.71","article-title":"Prevalence of neurofibromatosis 1 in German children at elementary school enrollment","volume":"141","author":"Lammert","year":"2005","journal-title":"Arch. 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