{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T15:18:57Z","timestamp":1747149537242,"version":"3.40.5"},"reference-count":34,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background\/aim<\/jats:title><jats:p>Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder. Clinical diagnosis is difficult in early childhood, and it is possible to miss a critical interval for tumour screening. In this study, we aimed to characterize the mutational spectrum of Turkish patients and discuss the benefits of molecular testing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Material and methods<\/jats:title><jats:p>Fifty individuals from 35 unrelated families were included. Main referral reasons for genetic testing were as follows: to confirm a clinical diagnosis, to use in differential diagnosis and to evaluate first\u2010degree family member of a known patient. Two\u2010step process consisting of initial next generation sequencing of the <jats:italic>NF1<\/jats:italic> gene and consequent multiplex ligation\u2010dependent probe amplification were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified a total of 30 variants in 28 individuals. Variant detection rate was 56% in the entire study group and 71.4% within the index patients. Four novel variants were found. Truncating variants constituted 60% of the entire mutation spectrum. A deletion or duplication was not detected. The most common feature was cafe au lait macules in 70% of the patients, followed by focal areas of signal intensity on brain imaging (26%), cutaneous neurofibromas (24%) and axillary freckling (24%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Early sequencing in all suspected patients followed by deletion\/duplication analysis in patients meeting clinical criteria and a case\u2010to\u2010case based consideration for RNA studies seems to be the effective algorithm for NF\u20101 diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jdn.10278","type":"journal-article","created":{"date-parts":[[2023,6,7]],"date-time":"2023-06-07T14:49:34Z","timestamp":1686149374000},"page":"456-465","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic evaluation of 50 Turkish patients with neurofibromatosis type 1: 2\u2009years experience of a single center"],"prefix":"10.1002","volume":"83","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9565-6907","authenticated-orcid":false,"given":"Mehmet","family":"Kocabey","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8520-623X","authenticated-orcid":false,"given":"Hande","family":"\u00d6zkalayc\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tufan","family":"\u00c7ankaya","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0853-3253","authenticated-orcid":false,"given":"Ceren","family":"Y\u0131lmaz Uzman","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmet Okay","family":"\u00c7a\u011flayan","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayfer","family":"\u00dclgenalp","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Murat Derya","family":"Er\u00e7al","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Faculty of Medicine Dokuz Eylul University  Izmir Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,6,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2019.00115"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000012436"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13649"},{"volume-title":"ClinVar database NF1","key":"e_1_2_10_5_1"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2021.106884"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2016.04.005"},{"volume-title":"Neurofibromatosis 1, GeneReviews(\u00ae)","year":"1998","author":"Friedman J.","key":"e_1_2_10_8_1"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096\u20108628(19990326)89:1<1::AID\u2010AJMG3>3.0.CO;2\u20108"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23624"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12422"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550010065042"},{"key":"e_1_2_10_13_1","unstructured":"HGMD NF1. 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