Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

1 Friedman JM. Neurofibromatosis 1. GeneReviews^®. Adam MP, Ardinger HH, Pagon RA, et al., Editors. Seattle, WA, USA: University of Washington, Seattle; 1993–2021. [Accessed July 2021] Available at: https://www.ncbi.nlm.nih.gov/books/NBK1109/. FriedmanJM Neurofibromatosis 1. GeneReviews® AdamMP ArdingerHH PagonRA Editors. Seattle, WA, USA University of Washington, Seattle 1993–2021 [Accessed July 2021] Available at: https://www.ncbi.nlm.nih.gov/books/NBK1109/ Search in Google Scholar

2 Lammert M, Friedman JM, Kluwe L, Mautner VF. Prevalence of neurofibromatosis 1 in German children at elementary school enrollment. Arch Dermatol. 2005; 141(1): 71–74. LammertM FriedmanJM KluweL MautnerVF Prevalence of neurofibromatosis 1 in German children at elementary school enrollment Arch Dermatol 2005 141 1 71 74 10.1001/archderm.141.1.71 Search in Google Scholar

3 Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, et al. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010; 152A(2): 327–332. EvansDG HowardE GiblinC ClancyT SpencerH HusonSM Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service Am J Med Genet A 2010 152A 2 327 332 10.1002/ajmg.a.33139 Search in Google Scholar

4 Yang F, Xu S, Liu R, Shi T, Li X, Li X, et al. The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing. Onco Targets Ther. 2018; 11: 919–932. YangF XuS LiuR ShiT LiX LiX The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing Onco Targets Ther 2018 11 919 932 10.2147/OTT.S156998 Search in Google Scholar

5 Shen MH, Harper PS, Upadhyaya M. Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet. 1996; 33(1): 2–17. ShenMH HarperPS UpadhyayaM Molecular genetics of neurofibromatosis type 1 (NF1) J Med Genet 1996 33 1 2 17 10.1136/jmg.33.1.2 Search in Google Scholar

6 Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. 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. 2015; 17(5): 405–424. RichardsS AzizN BaleS BickD DasS Gastier-FosterJ ACMG Laboratory Quality Assurance Committee 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 2015 17 5 405 424 10.1038/gim.2015.30 Search in Google Scholar

7 Anastasaki C, Le LQ, Kesterson RA, Gutmann DH. Updated nomenclature for human and mouse neurofibromatosis type 1 genes. Neurol Genet. 2017; 3(4): e169. AnastasakiC LeLQ KestersonRA GutmannDH Updated nomenclature for human and mouse neurofibromatosis type 1 genes Neurol Genet 2017 3 4 e169 10.1212/NXG.0000000000000169 Search in Google Scholar

8 Cooper DN, Ball EV, Stenson PD, Phillips AD, Evans K, Heywood S, et al. The human gene mutation database at the Institute of Medical Genetics in Cardiff. [Accessed February 2021] Available at: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=NF1). CooperDN BallEV StensonPD PhillipsAD EvansK HeywoodS The human gene mutation database at the Institute of Medical Genetics in Cardiff [Accessed February 2021] Available at: http://www.hgmd.cf.ac.uk/ac/gene.php?gene=NF1) Search in Google Scholar

9 Kopanos C, Tsiolkas V, Kouris A, Chapple CE, Albarca Aguilera M, Meyer R, et al. VarSome: The Human Genomic Variant Search Engine. Bioinformatics. 2019; 35(11): 1978–1980. doi: 10.1093/bioinformatics/bty897.bty897. [Accessed October 2018]. KopanosC TsiolkasV KourisA ChappleCE Albarca AguileraM MeyerR VarSome: The Human Genomic Variant Search Engine Bioinformatics 2019 35 11 1978 1980 10.1093/bioinformatics/bty897.bty897 [Accessed October 2018] Open DOISearch in Google Scholar

10 Zhu G, Zheng Y, Liu Y, Yan A, Hu Z, Yang Y, et al. Identification and characterization of NF1 and no-NF1 congenital pseudoarthrosis of the tibia based on germline NF1 variants: Genetic and clinical analysis of 75 patients. Orphanet J Rare Dis. 2019; 14(1): 221. ZhuG ZhengY LiuY YanA HuZ YangY Identification and characterization of NF1 and no-NF1 congenital pseudoarthrosis of the tibia based on germline NF1 variants: Genetic and clinical analysis of 75 patients Orphanet J Rare Dis 2019 14 1 221 10.1186/s13023-019-1196-0 Search in Google Scholar

11 Ducatman BS, Scheithauer BW, Piepgras DG, Reiman HM, Ilstrup DM. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer. 1986; 57(10): 2006–2021. DucatmanBS ScheithauerBW PiepgrasDG ReimanHM IlstrupDM Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases Cancer 1986 57 10 2006 2021 10.1002/1097-0142(19860515)57:10<2006::AID-CNCR2820571022>3.0.CO;2-6 Search in Google Scholar

12 Sharafi P, Ayter S. Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes. J Neurogenet. 2018; 32(2): 65–77. SharafiP AyterS Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes J Neurogenet 2018 32 2 65 77 10.1080/01677063.2018.1456538 Search in Google Scholar

13 Pasmant E, Vidaud M, Vidaud D, Wolkenstein P. Neurofibromatosis type 1: From genotype to phenotype. J Med Genet. 2012;49(8): 483–489. PasmantE VidaudM VidaudD WolkensteinP Neurofibromatosis type 1: From genotype to phenotype J Med Genet 2012 49 8 483 489 10.1136/jmedgenet-2012-100978 Search in Google Scholar