AUTHOR=Nisar Haider , Khan Memoona , Chaudhry Qamar Un Nisa , Iftikhar Raheel , Ghafoor Tariq 

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

JOURNAL=Frontiers in Oncology

VOLUME=13

YEAR=2023

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1098876

DOI=10.3389/fonc.2023.1098876

ISSN=2234-943X

ABSTRACT=<p>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 <italic>DKC1</italic>, <italic>TINF2</italic>, <italic>TERC</italic>, <italic>TERT</italic>, <italic>C16orf57</italic>, <italic>NOLA2</italic>, <italic>NOLA3</italic>, <italic>WRAP53/TCAB1</italic>, and <italic>RTEL1</italic>. Homozygous, compound heterozygous, and heterozygous mutations in <italic>RTEL1</italic> (<italic>RTEL1</italic>, regulator of telomere elongation helicase 1) gene on chromosome 20q13 are known to cause autosomal dominant as well as recessive DKC. Pathogenic variants of <italic>RTEL1</italic> gene in <italic>DKC</italic> patients include c.2288G&gt;T (p. Gly763Val), c.3791G&gt;A (p. Arg1264His), and <italic>RTEL</italic> p. Arg981Trp. We report a novel homozygous variant of <italic>RTEL1</italic>, transcript ID: ENST00000360203.11, exon 24, c.2060C&gt;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.</p>