Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita

Haider Nisar; Memoona Khan; Qamar Un Nisa Chaudhry; Raheel Iftikhar; Tariq Ghafoor

doi:10.3389/fonc.2023.1098876

Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita

Front Oncol. 2023 Mar 2:13:1098876. doi: 10.3389/fonc.2023.1098876. eCollection 2023.

Authors

Haider Nisar¹, Memoona Khan², Qamar Un Nisa Chaudhry^{1

2}, Raheel Iftikhar¹, Tariq Ghafoor¹

Affiliations

¹ Adult and Pediatric Transplant Unit, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, Pakistan.
² Pathology Department and Stem Cell Research Lab, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, Pakistan.

Abstract

Dyskeratosis congenita (DKC), also known as Zinsser-Cole-Engman syndrome, is a telomeropathy typically presenting as a triad of leukoplakia, nail dystrophy, and reticular hyperpigmentation. Reported genetic mutations linked to DKC include DKC1, TINF2, TERC, TERT, C16orf57, NOLA2, NOLA3, WRAP53/TCAB1, and RTEL1. Homozygous, compound heterozygous, and heterozygous mutations in RTEL1 (RTEL1, regulator of telomere elongation helicase 1) gene on chromosome 20q13 are known to cause autosomal dominant as well as recessive DKC. Pathogenic variants of RTEL1 gene in DKC patients include c.2288G>T (p. Gly763Val), c.3791G>A (p. Arg1264His), and RTEL p. Arg981Trp. We report a novel homozygous variant of RTEL1, transcript ID: ENST00000360203.11, exon 24, c.2060C>T (p.Ala687Val), in a patient of DKC presenting with leukoplakia, dystrophic nails, reticulate pigmentation, and positive family history of a similar phenotype. The novel variant, reported as a variant of uncertain significance, may therefore be considered diagnostic for DKC in a Pakistani population.

Keywords: RTEL1; dyskeratosis congenita; heterozygous; mutation; telomere biology disorders.

Publication types

Case Reports