{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T03:37:22Z","timestamp":1789616242574,"version":"build-2803163510"},"reference-count":46,"publisher":"BMJ","issue":"12","license":[{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-22-RAR4-0006-04"],"award-info":[{"award-number":["ANR-22-RAR4-0006-04"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001826","name":"ZonMw","doi-asserted-by":"publisher","award":["04630042210003"],"award-info":[{"award-number":["04630042210003"]}],"id":[{"id":"10.13039\/501100001826","id-type":"DOI","asserted-by":"publisher"}]},{"name":"European Joint Programme on Rare Diseases","award":["EJP RD COFUND-EJP N\u00b0825575"],"award-info":[{"award-number":["EJP RD COFUND-EJP N\u00b0825575"]}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2025,7,22]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders. NF1 is caused by dominant loss-of-function pathogenic variants (PVs) of the tumour-suppressor gene\n                      <jats:italic>NF1<\/jats:italic>\n                      , which encodes neurofibromin, a negative regulator of rat sarcoma proteins. NF1 is an autosomal dominant disorder with complete penetrance, but a highly variable expression. Identification of genotype\u2013phenotype correlations is challenging because of the wide clinical variability, the progressive nature of the disorder and the extreme diversity of the mutation spectrum. Only a few\n                      <jats:italic>NF1<\/jats:italic>\n                      point variants have been associated with a specific phenotype in NF1 patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We investigated a large, well-phenotyped NF1 cohort.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We report analyses of genotype-phenotype correlations in 112 NF1 patients with specific\n                      <jats:italic>NF1<\/jats:italic>\n                      point variants: p.Arg1809 missense variants were associated with a mild form of NF1 (n=24), while a more severe phenotype was associated with codons 844\u2013848 (n=27), p.Arg1276 (n=25) and p.Lys1423 (n=35) missense variants. We describe a new correlation for p.Arg1204 missense variants (n=11), with no neurofibroma observed in patients. Functional studies will be critical for drawing conclusions on the potential hypomorphic or dominant-negative effects of these variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      The current data confirms several genotype-phenotype correlations in NF1, which may be relevant to the management and surveillance of NF1 patients with specific\n                      <jats:italic>NF1<\/jats:italic>\n                      PVs.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg-2025-110783","type":"journal-article","created":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T17:20:20Z","timestamp":1754328020000},"page":"783-793","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":8,"title":["Refined genotype\u2013phenotype correlations in neurofibromatosis type 1 patients with\n                    <i>NF1<\/i>\n                    point variants"],"prefix":"10.1136","volume":"62","author":[{"given":"Laurence","family":"Pacot","sequence":"first","affiliation":[{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, Universit\u00e9 Paris Cit\u00e9, CARPEM, Paris, France"},{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, DMU BioPhyGen, H\u00f4pital Cochin, AP-HP.Centre-Universit\u00e9 Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinus","family":"Blok","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands"},{"name":"GROW-School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Vidaud","sequence":"additional","affiliation":[{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, Universit\u00e9 Paris Cit\u00e9, CARPEM, Paris, France"},{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, DMU BioPhyGen, H\u00f4pital Cochin, AP-HP.Centre-Universit\u00e9 Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Fertitta","sequence":"additional","affiliation":[{"name":"Department of Dermatology, H\u00f4pital Henri Mondor, Assistance Publique-H\u00f4pital Paris (AP-HP), Cr\u00e9teil, France"},{"name":"INSERM U955, Universit\u00e9 Paris Est Cr\u00e9teil (UPEC), Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ingrid","family":"Laurendeau","sequence":"additional","affiliation":[{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, Universit\u00e9 Paris Cit\u00e9, CARPEM, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Audrey","family":"Coustier","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, DMU BioPhyGen, H\u00f4pital Cochin, AP-HP.Centre-Universit\u00e9 Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theodora","family":"Maillard","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, DMU BioPhyGen, H\u00f4pital Cochin, AP-HP.Centre-Universit\u00e9 Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9cile","family":"Barbance","sequence":"additional","affiliation":[{"name":"F\u00e9d\u00e9ration de G\u00e9n\u00e9tique et M\u00e9decine G\u00e9nomique, DMU BioPhyGen, H\u00f4pital Cochin, AP-HP.Centre-Universit\u00e9 Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Djihad","family":"Hadjadj","sequence":"additional","affiliation":[{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, Universit\u00e9 Paris Cit\u00e9, CARPEM, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Ye","sequence":"additional","affiliation":[{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, Universit\u00e9 Paris Cit\u00e9, CARPEM, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dominique","family":"Lallemand","sequence":"additional","affiliation":[{"name":"Institut Cochin, Inserm U1016, CNRS UMR8104, Universit\u00e9 Paris Cit\u00e9, CARPEM, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salah","family":"Ferkal","sequence":"additional","affiliation":[{"name":"Department of Dermatology, H\u00f4pital Henri Mondor, Assistance Publique-H\u00f4pital Paris (AP-HP), Cr\u00e9teil, France"},{"name":"INSERM U955, Universit\u00e9 Paris Est Cr\u00e9teil (UPEC), Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benoit","family":"Funalot","sequence":"additional","affiliation":[{"name":"Department of Genetics, AP-HP (Assistance Publique-H\u00f4pitaux de Paris), Henri Mondor University Hospital, Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ariane","family":"Lunati-Rozie","sequence":"additional","affiliation":[{"name":"Department of Genetics, AP-HP (Assistance Publique-H\u00f4pitaux de Paris), Henri Mondor University Hospital, Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9r\u00e9nice","family":"Hebrard","sequence":"additional","affiliation":[{"name":"Department of Genetics, AP-HP (Assistance Publique-H\u00f4pitaux de Paris), Henri Mondor University Hospital, Cr\u00e9teil, 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France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Genevieve","family":"Baujat","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine G\u00e9nomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Universit\u00e9 Paris Cit\u00e9, H\u00f4pital Necker-Enfants Malades, Assistance Publique des H\u00f4pitaux de Paris, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuelle","family":"Bourrat","sequence":"additional","affiliation":[{"name":"Department of Dermatology, MAGEC-Nord H\u00f4pital Saint Louis, Assistance Publique des H\u00f4pitaux de Paris (AP-HP), Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"Medical Genetics Department, CHU de Nantes, H\u00f4tel Dieu Hospital, Nantes, 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