A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing

A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing Publisher Pubmed

Khakzad M¹ ; Shahbazi Z² ; Naderi M³ ; Karimipoor M¹

Source: Iranian biomedical journal Published:2023

Abstract

Background: Dyskeratosis congenita (DC), an inherited and rare disease prevalent in males, is clinically manifested by reticulate hyperpigmentation, nail dystrophy, and leukoplakia. DC is associated with the increased risk of malignancy and other potentially lethal complications such as bone marrow failure, as well as lung and liver diseases. Mutations in 19 genes were found to be correlated with DC. Herein, we report a 12-year-old boy carrying a de novo mutation in TINF2 gene. Methods: Whole exome sequencing (WES) was performed on DNA sample of the proband, and the variant was investigated in the family by Sanger sequencing. Population and bioinformatics analysis were performed. Results: The NM_ 001099274.3(TINF2): c.844C>T (p.Arg282Cys) mutation was found by WES. Conclusion: There was no history of the disease in the family, and the variant was classified as a de novo mutation.

Related Docs

View other Related Docs

1. Identification of a Novel Homozygous Mutation in the Ddr2 Gene From a Patient With Spondylo-Meta-Epiphyseal Dysplasia by Whole Exome Sequencing, Iranian Journal of Basic Medical Sciences (2021)

2. A Novel Pathogenic Variant in the Fzd6 Gene Causes Recessive Nail Dysplasia in a Large Iranian Kindred, Journal of Dermatological Science (2017)

3. Autosomal Recessive Congenital Ichthyosis: Genomic Landscape and Phenotypic Spectrum in a Cohort of 125 Consanguineous Families, Human Mutation (2019)

Experts (# of related papers)

View all Related Experts

Maryam Daneshpajooh (2)

Hamid Reza Mahmoodi (2)

Style	Citing Format
MLA	Khakzad M, et al.. "A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing." Iranian biomedical journal, vol. 27, no. 2 3, 2023, pp. 146-151.
APA	Khakzad M, Shahbazi Z, Naderi M, Karimipoor M (2023). A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing. Iranian biomedical journal, 27(2 3), 146-151.
Chicago	Khakzad M, Shahbazi Z, Naderi M, Karimipoor M. "A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing." Iranian biomedical journal 27, no. 2 3 (2023): 146-151.
Harvard	Khakzad M et al. (2023) 'A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing', Iranian biomedical journal, 27(2 3), pp. 146-151.
Vancouver	Khakzad M, Shahbazi Z, Naderi M, Karimipoor M. A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing. Iranian biomedical journal. 2023;27(2 3):146-151.
BibTex	@article{ author = {Khakzad M and Shahbazi Z and Naderi M and Karimipoor M}, title = {A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing}, journal = {Iranian biomedical journal}, volume = {27}, number = {2 3}, pages = {146-151}, year = {2023} }
RIS	TY - JOUR AU - Khakzad M AU - Shahbazi Z AU - Naderi M AU - Karimipoor M TI - A De Novo Tinf2, R282c Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing JO - Iranian biomedical journal VL - 27 IS - 2 3 SP - 146 EP - 151 PY - 2023 ER -

Science Communicator Platform

Authors

Abstract