CASE REPORT FOR TWO SIBLINGS CARRYING
NEUROFIBROMATOSIS TYPE 1 WITH A RARE
NF1: c.5392C>T MUTATION
Sayın Kocakap DB1,*, Gündüz Ö2
, Özer L3
, Durak M
*Corresponding Author: : Associate Professor Derya B. Sayın Kocakap, Kırıkkale Üniversitesi Tıp
FakültesiTıbbi GenetikAD,AnkaraYolu 7.km, 71450, Kırıkkale,Turkey.Tel.: +90-318-357-3300/5784.
Fax: +90-318-225-2819. E-mail: dsayin@yahoo.com
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REFERENCES
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2. Lammert M, Friedman JM, Kluwe L, Mautner VF.
Prevalence of neurofibromatosis 1 in German children at elementary school enrollment.Arch Dermatol.
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Huson SM, et al. Birth incidence and prevalence of
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4. Yang F, Xu S, LiuR, ShiT, Li X, Li X, et al.The investigation for potential modifier genes in patients with
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5. Shen MH, Harper PS, Upadhyaya M. Molecular
genetics of neurofibromatosis type 1 (NF1). J Med
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6. Richards S, Aziz N, Bale S, Bick D, Das S, GastierFoster J, et al.; ACMG Laboratory Quality Assurance
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7. Anastasaki C, Le LQ, Kesterson RA, Gutmann DH.
Updated nomenclature for human and mouse neurofibromatosis type 1 genes. Neurol Genet. 2017; 3(4):
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8. Cooper DN, Ball EV, Stenson PD, PhillipsAD, Evans
K, Heywood S, et al. The human gene mutation database at the Institute of Medical Geneticsin Cardiff.
[Accessed February 2021] Available at: http://www.
hgmd. cf.ac.uk/ac/gene.php?gene=NF1).
9. KopanosC,TsiolkasV,KourisA,ChappleCE,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].
10. Zhu G, Zheng Y, Liu Y, Yan A, Hu Z, Yang Y, et al.
Identification and characterization of NF1 and noNF1 congenital pseudoarthrosis of the tibia based on
germline NF1 variants: Genetic and clinical analysis
of 75 patients. OrphanetJ Rare Dis. 2019; 14(1): 221.
11. Ducatman BS, Scheithauer BW, Piepgras DG,
Reiman HM, Ilstrup DM. Malignant peripheral nerve
sheath tumors.Aclinicopathologic study of 120 cases.
Cancer. 1986; 57(10): 2006-2021.
12. Sharafi P, Ayter S. Possible modifier genes in the
variation of neurofibromatosis type 1 clinical phenotypes. J Neurogenet. 2018; 32(2): 65-77.
13. Pasmant E, Vidaud M, Vidaud D, Wolkenstein P.
Neurofibromatosis type 1: From genotype to phenotype. J Med Genet. 2012;49(8): 483-489.
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