{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T23:38:34Z","timestamp":1777592314018,"version":"3.51.4"},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Egypt J Med Hum Genet"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous manifestations, is caused by heterozygous pathogenic variants in\u00a0<jats:italic>NF1<\/jats:italic>\u00a0gene. While patients with NF1 often exhibit characteristic features, atypical phenotypes can arise, necessitating consideration of differential diagnoses or concurrent pathologies.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A seven-year-old boy with suspected NF1 underwent clinical evaluation. He presented hallmark caf\u00e9-au-lait spots, axillary freckling, and neurofibromas. Neuroimaging revealed a cranial plexiform neurofibroma. Additionally, he exhibited attention-deficit hyperactivity disorder and developmental delay. Genetic testing identified an Alu insertion variant within the <jats:italic>NF1<\/jats:italic> gene, and subsequent array comparative genomic hybridization detected a 16p13.11 duplication.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This case underscores the intricate molecular bases of NF1 by identifying a rare Alu insertion variant. The patient's neurocognitive challenges and dysmorphic features prompted exploration of a potential overlapping genetic condition. Coexisting genetic disorders have been documented in NF1 patients, emphasizing the necessity of discerning atypical manifestations. The observed 16p13.11 duplication likely contributes to the patient's phenotype, enhancing the precision of diagnosis, prognosis, and genetic counseling.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s43042-024-00575-6","type":"journal-article","created":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T13:02:47Z","timestamp":1725368567000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication"],"prefix":"10.1186","volume":"25","author":[{"given":"Rita","family":"Quental","sequence":"first","affiliation":[]},{"given":"Diana","family":"Pinho","sequence":"additional","affiliation":[]},{"given":"Nat\u00e1lia","family":"Tkachenko","sequence":"additional","affiliation":[]},{"given":"Diana","family":"Gonzaga","sequence":"additional","affiliation":[]},{"given":"Maria do C\u00e9u","family":"Mota","sequence":"additional","affiliation":[]},{"given":"Cristina","family":"Garrido","sequence":"additional","affiliation":[]},{"given":"Carla","family":"Carmona","sequence":"additional","affiliation":[]},{"given":"Sofia","family":"Quental","sequence":"additional","affiliation":[]},{"given":"Ana Maria","family":"Fortuna","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2907-0091","authenticated-orcid":false,"given":"C\u00e9lia","family":"Azevedo Soares","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2024,9,3]]},"reference":[{"issue":"8","key":"575_CR1","doi-asserted-by":"publisher","first-page":"1506","DOI":"10.1038\/s41436-021-01170-5","volume":"23","author":"E Legius","year":"2021","unstructured":"Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y et al (2021) Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. 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PLoS Genet 7(11):e1002371","journal-title":"PLoS Genet"},{"key":"575_CR4","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1097\/MCD.0000000000000296","volume":"29","author":"P Cianci","year":"2020","unstructured":"Cianci P, Pezzoli L, Maitz S, Agosti M, Iascone M, Selicorni A (2020) Dual genetic diagnoses: neurofibromatosis type 1 and KBG syndrome. Clin Dysmorphol 29:101\u2013103","journal-title":"Clin Dysmorphol"},{"issue":"3","key":"575_CR5","doi-asserted-by":"publisher","first-page":"911","DOI":"10.1002\/ajmg.a.62575","volume":"188","author":"K Muthusamy","year":"2022","unstructured":"Muthusamy K, El-Jabali A, Ongie LJ, Dhamija R, Babovic-Vuksanovic D (2022) Neurofibromatosis 1 in the setting of dual diagnosis: diagnostic and management conundrums. Am J Med Genet Part A 188(3):911\u2013918","journal-title":"Am J Med Genet Part A"},{"issue":"5","key":"575_CR6","doi-asserted-by":"publisher","first-page":"301","DOI":"10.1136\/jmedgenet-2018-105389","volume":"57","author":"LA El Khattabi","year":"2020","unstructured":"El Khattabi LA, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C et al (2020) 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations. J Med Genet 57(5):301\u2013307","journal-title":"J Med Genet"},{"issue":"6","key":"575_CR7","doi-asserted-by":"publisher","first-page":"e1002118","DOI":"10.1371\/journal.pgen.1002118","volume":"7","author":"SQ Kuang","year":"2011","unstructured":"Kuang SQ, Guo DC, Prakash SK, McDonald MLN, Johnson RJ, Wang M et al (2011) Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections. PLoS Genet 7(6):e1002118","journal-title":"PLoS Genet"},{"issue":"1","key":"575_CR8","doi-asserted-by":"publisher","first-page":"202","DOI":"10.1002\/ccr3.1908","volume":"7","author":"K Boulier","year":"2019","unstructured":"Boulier K, Erwin DJ, Nagamani S, Eble TN (2019) A case report of hamartomatous polyposis in an individual with neurofibromatosis type 1. Clin Case Rep 7(1):202\u2013205","journal-title":"Clin Case Rep"},{"issue":"7","key":"575_CR9","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1038\/jhg.2011.42","volume":"56","author":"A Ramalingam","year":"2011","unstructured":"Ramalingam A, Zhou XG, Fiedler SD, Brawner SJ, Joyce JM, Liu HY et al (2011) 16P13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders. J Hum Genet [Internet] 56(7):541\u2013544. https:\/\/doi.org\/10.1038\/jhg.2011.42","journal-title":"J Hum Genet [Internet]"}],"container-title":["Egyptian Journal of Medical Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s43042-024-00575-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s43042-024-00575-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s43042-024-00575-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T13:13:58Z","timestamp":1725369238000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmhg.springeropen.com\/articles\/10.1186\/s43042-024-00575-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,3]]},"references-count":9,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["575"],"URL":"https:\/\/doi.org\/10.1186\/s43042-024-00575-6","relation":{},"ISSN":["2090-2441"],"issn-type":[{"value":"2090-2441","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,3]]},"assertion":[{"value":"5 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 September 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"All manuscript contents were reviewed and approved by the local ethical committee from the Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient parents for publication of this case report and accompanying images.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no conflicts of interest regarding the content of this manuscript.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"99"}}