Bergqvist, C. et al. Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966. Orphanet J. Rare Dis. 15, 37 (2020).
Article PubMed PubMed Central Google Scholar
Cimino, P. J. & Gutmann, D. H. Neurofibromatosis type 1. Handb. Clin. Neurol. 148, 799–811 (2018).
Jett, K. & Friedman, J. M. Clinical and genetic aspects of neurofibromatosis 1. Genet. Med. J. Am. Coll. Med. Genet. 12, 1–11 (2010).
Legius, E. et al. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet. Med. 23, 1506–1513 (2021).
Article PubMed PubMed Central Google Scholar
Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch. Neurol. 45, 575–578 (1988).
Koczkowska, M. et al. Genotype–phenotype correlation in NF1: evidence for a more severe phenotype associated with missense mutations affecting NF1 codons 844–848. Am. J. Hum. Genet. 102, 69–87 (2018).
Article CAS PubMed Google Scholar
Koczkowska, M. et al. Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation. Genet. Med. J. Am. Coll. Med. Genet. 21, 867–876 (2019).
Koczkowska, M. et al. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Hum. Mutat. 41, 299–315 (2020).
Article CAS PubMed Google Scholar
Upadhyaya, M. et al. An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype–phenotype correlation. Am. J. Hum. Genet. 80, 140–151 (2007).
Article CAS PubMed Google Scholar
Rojnueangnit, K. et al. High incidence of noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype–phenotype correlation. Hum. Mutat. 36, 1052–1063 (2015).
Article CAS PubMed PubMed Central Google Scholar
Pasmant, E. et al. NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum. Mutat. 31, E1506–E1518 (2010).
Article CAS PubMed Google Scholar
Gutmann, D. H. et al. Neurofibromatosis type 1. Nat. Rev. Dis. Prim. 3, 17004 (2017).
Sabbagh, A. et al. Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1. Hum. Mol. Genet. 18, 2768–2778 (2009).
Article CAS PubMed PubMed Central Google Scholar
Pacot, L. et al. Identification of potential common genetic modifiers of neurofibromas: a genome wide association study in 1333 neurofibromatosis type 1 patient. Br. J. Dermatol. https://doi.org/10.1093/bjd/ljad390 (2023).
Pasmant, E., Vidaud, M., Vidaud, D. & Wolkenstein, P. Neurofibromatosis type 1: from genotype to phenotype. J. Med. Genet. 49, 483–489 (2012).
Article CAS PubMed Google Scholar
Ratner, N. & Miller, S. J. A RASopathy gene commonly mutated in cancer: the neurofibromatosis type 1 tumour suppressor. Nat. Rev. Cancer 15, 290–301 (2015).
Article CAS PubMed PubMed Central Google Scholar
Sabbagh, A. et al. NF1 molecular characterization and neurofibromatosis type I genotype–phenotype correlation: the French experience. Hum. Mutat. 34, 1510–1518 (2013).
Article CAS PubMed Google Scholar
Pacot, L. et al. Severe phenotype in patients with large deletions of NF1. Cancers 13, 2963 (2021).
Article CAS PubMed PubMed Central Google Scholar
Pacot, L. et al. Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions. J. Mol. Diagn. JMD https://doi.org/10.1016/j.jmoldx.2023.11.005 (2023).
Pasmant, E. et al. Identification of genes potentially involved in the increased risk of malignancy in NF1-microdeleted patients. Mol. Med. Camb. Mass 17, 79–87 (2011).
Biesecker, L. G. & Spinner, N. B. A genomic view of mosaicism and human disease. Nat. Rev. Genet. 14, 307–320 (2013).
Article CAS PubMed Google Scholar
Samuels, M. E. & Friedman, J. M. Genetic mosaics and the germ line lineage. Genes 6, 216–237 (2015).
Article CAS PubMed PubMed Central Google Scholar
Veltman, J. A. & Brunner, H. G. De novo mutations in human genetic disease. Nat. Rev. Genet. 13, 565–575 (2012).
Article CAS PubMed Google Scholar
Messiaen, L. M. et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum. Mutat. 15, 541–555 (2000).
Article CAS PubMed Google Scholar
Cook, C. B. et al. Somatic mosaicism detected by genome-wide sequencing in 500 parent–child trios with suspected genetic disease: clinical and genetic counseling implications. Mol. Case Stud. 7, a006125 (2021).
Brems, H. et al. Review and update of SPRED1 mutations causing Legius syndrome. Hum. Mutat. 33, 1538–1546 (2012).
Article CAS PubMed Google Scholar
Garcia, B. et al. Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: What should be offered? J. Med. Genet. 59, 1017–1023 (2022).
Article CAS PubMed Google Scholar
Rietman, A. B. et al. Worries and needs of adults and parents of adults with neurofibromatosis type 1. Am. J. Med. Genet. A. 176, 1150–1160 (2018).
Article PubMed PubMed Central Google Scholar
Cesaretti, C. et al. Neurofibromatosis type 1 and pregnancy: maternal complications and attitudes about prenatal diagnosis. Am. J. Med. Genet. A. 161, 386–388 (2013).
Origone, P. et al. The genoa experience of prenatal diagnosis in NF1. Prenat. Diagn. 20, 719–724 (2000).
Article CAS PubMed Google Scholar
Radtke, H. B. et al. Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis-practice resource of the National Society of Genetic Counselors. J. Genet. Couns. 29, 692–714 (2020).
Vernimmen, V. et al. Preimplantation genetic testing for neurofibromatosis type 1: more than 20 years of clinical experience. Eur. J. Hum. Genet. EJHG https://doi.org/10.1038/s41431-023-01404-x (2023).
Richards, S. et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet. Med. 17, 405–424 (2015).
Article PubMed PubMed Central Google Scholar
Park, V. M. & Pivnick, E. K. Neurofibromatosis type 1 (NF1): a protein truncation assay yielding identification of mutations in 73% of patients. J. Med. Genet. 35, 813–820 (1998).
Article CAS PubMed PubMed Central Google Scholar
Mattocks, C. et al. Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11–17 distinct from the GAP related domain. J. Med. Genet. 41, e48 (2004).
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