Prenatal diagnosis for neurofibromatosis type 1 and the pitfalls of germline mosaics

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).

Article  PubMed  Google Scholar 

Jett, K. & Friedman, J. M. Clinical and genetic aspects of neurofibromatosis 1. Genet. Med. J. Am. Coll. Med. Genet. 12, 1–11 (2010).

Google Scholar 

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).

Google Scholar 

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).

CAS  Google Scholar 

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).

Article  PubMed  Google Scholar 

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).

CAS  PubMed  Google Scholar 

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).

Article  Google Scholar 

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).

Article  Google Scholar 

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).

Article  PubMed  Google Scholar 

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).

Article  CAS  PubMed  PubMed Central 

留言 (0)

沒有登入
gif