{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T21:19:15Z","timestamp":1792444755818,"version":"4.5.0"},"reference-count":23,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2015,5,15]],"date-time":"2015-05-15T00:00:00Z","timestamp":1431648000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,3]]},"abstract":"The Danish sperm donor number 7042 has fathered several offspring with neurofibromatosis type 1 (NF1<\/jats:styled-content>) worldwide. NF1<\/jats:styled-content> is caused by loss\u2010of\u2010function mutations in the NF1<\/jats:styled-content><\/jats:italic> gene and more than 1000 NF1<\/jats:styled-content><\/jats:italic> mutations are identified. Analysis of the donor sperm demonstrated gonosomal mosaicism with an intragenic deletion involving exons 15\u201329 in the NF1<\/jats:styled-content><\/jats:italic> gene. At the two Danish reference centres for NF1<\/jats:styled-content> patients, we evaluated 23 half\u2010siblings from the donor. Nine were diagnosed with NF1<\/jats:styled-content>. The severity grade of NF1<\/jats:styled-content> progressed from minimal to mild\/moderate within 3 years of follow\u2010up. The NF1<\/jats:styled-content> phenotype shows great variability in intra\u2010 and inter\u2010family expressivity and to date only two NF1<\/jats:styled-content> genotype\u2013phenotype correlations have been established. This rare possibility of a long\u2010term follow\u2010up of a cohort of half\u2010siblings with NF1<\/jats:styled-content> makes further studies including phenotypic variability and search for modifier genes possible. To achieve this goal, we have initiated The International Donor 7042 NF1<\/jats:styled-content> Offspring Registry. Research facilitated via this registry may reveal important new knowledge of clinical characteristics and prognostics for the specific NF1<\/jats:styled-content> genotype and thereby contribute to future individualised targeted clinical follow\u2010up and treatment.<\/jats:p>","DOI":"10.1111\/cge.12600","type":"journal-article","created":{"date-parts":[[2015,4,15]],"date-time":"2015-04-15T07:04:27Z","timestamp":1429081467000},"page":"346-350","source":"Crossref","is-referenced-by-count":28,"title":["Clinical presentations of 23 half\u2010siblings from a mosaic neurofibromatosis type 1 sperm donor"],"prefix":"10.1111","volume":"89","author":[{"given":"C.","family":"Ejerskov","sequence":"first","affiliation":[{"name":"Centre for Rare Diseases, Department of Paediatrics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Farholt","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Department of Paediatrics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Skovby","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Department of Clinical Genetics Copenhagen University Hospital Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.M.","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Haagerup","sequence":"additional","affiliation":[{"name":"Centre for Rare Diseases, Department of Paediatrics Aarhus University Hospital Aarhus Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,5,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"crossref","unstructured":"HaagerupA PedersenC FarholtS. A mosaic sperm donor fathers a large group of half sibs with NF12012 fromhttp:\/\/www.bmj.com\/content\/345\/bmj.e6570?tab=responses. Accessed on October 7 2013.","DOI":"10.1136\/bmj.e6570"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/des014"},{"key":"e_1_2_6_4_1","unstructured":"OMIM. Online Mendelian Inheritance in Man OMIM\u00ae. Johns Hopkins University Baltimore MD. MIM Number: {162200}2013 fromhttp:\/\/omim.org\/. 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