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

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
By:
Open Access
|Jun 2022

Figures & Tables

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 IDPhenotypePublication (Reference)
chr14:24711458c.81C>Ap.Cys27Terrs1060499576DC, RS/
chr14:24709890c.796C>Tp.Arg266Terrs1064795632N/A/
chr14:24709881c.805C>Tp.Gln269Terrs387907153DC, mucocutaneous features, BMF19, 18
chr14:24709875c.811C>Tp.Gln271Terrs387907154AA19
chr14:24709860c.826delAp.Arg276GlyfsTer41rs863223324ND, BMF, lichenoid tongue, dry skin, intrauterine growth retardation18
chr14:24709848c.838A>Tp.Lys280Terrs121918543DC, HHS, and RS12, 15
chr14:24709848c.838A>Gp.Lys280Glurs121918543DC12, 21, 8
chr14:24709847c.839delAp.Lys280ArgfsTer37rs1594551449DC, RS19
chr14:24709842c.844C>Ap.Arg282Serrs121918545DC, RS12, 17, 23
chr14:24709842c.844C>Tp.Arg282Cysrs121918545DC, AA, PD and mucosal changes20, 12, 17
chr14:24709841c.845G>Ap.Arg282Hisrs121918544DC, HHS, RS12, 22, 17, 24, 25, 26, 27, 28
chr14:24709839c.847C>Tp.Pro283Serrs199422311DC, HHS12, 15
chr14:24709839c.847C>Gp.Pro283Alars199422311DC12, 15
chr14:24709838c.848C>Ap.Pro283Hisrs199422313DC12, 15
chr14:24709837c.849delCp.Thr284GlnfsTer33/ND, BMF18
chr14:24709837c.849_850insCp.Thr284HisfsTer8rs199422315DC, AA12, 15
chr14:24709836c.850A>Gp.Thr284Alars199422314DC12, 15
chr14:24709835c.851C>Ap.Thr284Lys/DC18
chr14:24709835c.851C>Gp.Thr284Arg/BMF, hair loss, dental loss, PD, short stature, osteoporosis18
chr14:24709829c.857delTinsGCp.Met286SerfsTer5/ND, BMF, microcephaly, low immunoglobulins18
chr14:24709826c.860T>Cp.Leu287Prors199422316DC12, 15
chr14-24709824c.862T>Cp.Phe288Leurs199422317DC12, 15
chr14:24709821c.865C>Tp.Pro289Serrs1555304055N/A29
chr14:24709820c.865_866delinsAGp.Pro289Serrs199422318DC12, 15
chr14:24709819c.867_868insCp.Phe290LeufsTer2/DC12
chr14:24709815c.871A>Gp.Arg291Glyrs199422319DC12, 15
chr14:24709812c.872_875delp.Arg291IlefsTer25/DC, PD14
chr14:24709794c.892delCp.Gln298ArgfsTer19rs199422320DC12, 15
chr14:24709508c.1090dupp.Leu364ProfsTer9rs1566366182DC/

Hematology results and clinical characteristic during the follow up

AnalysisI st admission2 months4 months
Hb (g/l)1028672
RBC (109/l)3.32.62.3
MCV (fl)98.2102105
WBC (109/l)6.034.84.9
Granulocyte (109/l)1.251.00.8
PLT (109/l)27127
BM aspiration and BM biopsyMegaloblastic maturation, Megakaryocytic hypoplasia Hypo plastic, fatty bone marrow
Nail dystrophyNoNoPresent
Skin hyperpigmentationNoNoPresent
Mucosal LeucoplakiaNoNoNo
Genetic analyses c.845G>A, p. (Arg282His)
DOI: https://doi.org/10.2478/bjmg-2021-0027 | Journal eISSN: 2199-5761
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Language: English
Page range: 89 - 93
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
gene mutation,
Aplastic anemia,
DC
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2022 SA Kocheva, M Gjorgjievska, K Martinova, Z Antevska-Trajkova, A Jovanovska, D Plaseska-Karanfilska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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