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de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita

SA Kocheva

SA Kocheva

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Kocheva, SA
, 
M Gjorgjievska

M Gjorgjievska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Gjorgjievska, M
, 
K Martinova

K Martinova

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Martinova, K
, 
Z Antevska-Trajkova

Z Antevska-Trajkova

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Antevska-Trajkova, Z
, 
A Jovanovska

A Jovanovska

Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of MedicineSkopje, North Macedonia
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Jovanovska, A
 oraz 
D Plaseska-Karanfilska

D Plaseska-Karanfilska

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and ArtsSkopje, North Macedonia
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Plaseska-Karanfilska, D
  
05 cze 2022
de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita's Cover Image
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Kategoria artykułu: Case Report
Data publikacji: 05 cze 2022
Zakres stron: 89 - 93
DOI: https://doi.org/10.2478/bjmg-2021-0027
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© 2021 SA Kocheva et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Figure 1

TINF2 gene exon 6 direct sequencing results in the proband.
TINF2 gene exon 6 direct sequencing results in the proband.

Figure 2

Schematic representation of the pathogenic TINF2 gene variants.
Schematic representation of the pathogenic TINF2 gene variants.

List of known pathogenic TINF2 gene variants

Chr Position (GRCh37) Nucleotide change (NM_001099274) Amino acid change (NP_001092744) rs ID Phenotype Publication (Reference)
chr14:24711458 c.81C>A p.Cys27Ter rs1060499576 DC, RS /
chr14:24709890 c.796C>T p.Arg266Ter rs1064795632 N/A /
chr14:24709881 c.805C>T p.Gln269Ter rs387907153 DC, mucocutaneous features, BMF 19, 18
chr14:24709875 c.811C>T p.Gln271Ter rs387907154 AA 19
chr14:24709860 c.826delA p.Arg276GlyfsTer41 rs863223324 ND, BMF, lichenoid tongue, dry skin, intrauterine growth retardation 18
chr14:24709848 c.838A>T p.Lys280Ter rs121918543 DC, HHS, and RS 12, 15
chr14:24709848 c.838A>G p.Lys280Glu rs121918543 DC 12, 21, 8
chr14:24709847 c.839delA p.Lys280ArgfsTer37 rs1594551449 DC, RS 19
chr14:24709842 c.844C>A p.Arg282Ser rs121918545 DC, RS 12, 17, 23
chr14:24709842 c.844C>T p.Arg282Cys rs121918545 DC, AA, PD and mucosal changes 20, 12, 17
chr14:24709841 c.845G>A p.Arg282His rs121918544 DC, HHS, RS 12, 22, 17, 24, 25, 26, 27, 28
chr14:24709839 c.847C>T p.Pro283Ser rs199422311 DC, HHS 12, 15
chr14:24709839 c.847C>G p.Pro283Ala rs199422311 DC 12, 15
chr14:24709838 c.848C>A p.Pro283His rs199422313 DC 12, 15
chr14:24709837 c.849delC p.Thr284GlnfsTer33 / ND, BMF 18
chr14:24709837 c.849_850insC p.Thr284HisfsTer8 rs199422315 DC, AA 12, 15
chr14:24709836 c.850A>G p.Thr284Ala rs199422314 DC 12, 15
chr14:24709835 c.851C>A p.Thr284Lys / DC 18
chr14:24709835 c.851C>G p.Thr284Arg / BMF, hair loss, dental loss, PD, short stature, osteoporosis 18
chr14:24709829 c.857delTinsGC p.Met286SerfsTer5 / ND, BMF, microcephaly, low immunoglobulins 18
chr14:24709826 c.860T>C p.Leu287Pro rs199422316 DC 12, 15
chr14-24709824 c.862T>C p.Phe288Leu rs199422317 DC 12, 15
chr14:24709821 c.865C>T p.Pro289Ser rs1555304055 N/A 29
chr14:24709820 c.865_866delinsAG p.Pro289Ser rs199422318 DC 12, 15
chr14:24709819 c.867_868insC p.Phe290LeufsTer2 / DC 12
chr14:24709815 c.871A>G p.Arg291Gly rs199422319 DC 12, 15
chr14:24709812 c.872_875del p.Arg291IlefsTer25 / DC, PD 14
chr14:24709794 c.892delC p.Gln298ArgfsTer19 rs199422320 DC 12, 15
chr14:24709508 c.1090dup p.Leu364ProfsTer9 rs1566366182 DC /

Hematology results and clinical characteristic during the follow up

Analysis I st admission 2 months 4 months
Hb (g/l) 102 86 72
RBC (109/l) 3.3 2.6 2.3
MCV (fl) 98.2 102 105
WBC (109/l) 6.03 4.8 4.9
Granulocyte (109/l) 1.25 1.0 0.8
PLT (109/l) 27 12 7
BM aspiration and BM biopsy Megaloblastic maturation, Megakaryocytic hypoplasia Hypo plastic, fatty bone marrow
Nail dystrophy No No Present
Skin hyperpigmentation No No Present
Mucosal Leucoplakia No No No
Genetic analyses c.845G>A, p. (Arg282His)
Język:
Angielski
Częstotliwość wydawania:
2 razy w roku
Dziedziny czasopisma:
Medycyna, Podstawowe nauki medyczne, Podstawowe nauki medyczne, inne
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