
CASE REPORT FOR TWO SIBLINGS CARRYING
NEUROFIBROMATOSIS TYPE 1 WITH A RARE
NF1: c.5392C>T MUTATION Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M *Corresponding Author: Associate Professor Derya B. Sayın Kocakap, Kırıkkale Üniversitesi Tıp
Fakültesi Tıbbi Genetik AD, Ankara Yolu 7.km, 71450, Kırıkkale, Turkey. Tel.: +90-318-357-3300/5784.
Fax: +90-318-225-2819. E-mail: dsayin@yahoo.com page: 99
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REFERENCES
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/.
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.
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.
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.
5. Shen MH, Harper PS, Upadhyaya M. Molecular
genetics of neurofibromatosis type 1 (NF1). J Med
Genet. 1996; 33(1): 2-17.
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.
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.
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).
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].
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.
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.
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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