Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
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...
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Frontiers Media S.A.
2023-03-01
|
| Series: | Frontiers in Oncology |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1098876/full |
| _version_ | 1811161640586969088 |
|---|---|
| author | Haider Nisar Memoona Khan Qamar Un Nisa Chaudhry Qamar Un Nisa Chaudhry Raheel Iftikhar Tariq Ghafoor |
| author_facet | Haider Nisar Memoona Khan Qamar Un Nisa Chaudhry Qamar Un Nisa Chaudhry Raheel Iftikhar Tariq Ghafoor |
| author_sort | Haider Nisar |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T06:17:37Z |
| format | Article |
| id | doaj.art-b147da54d44247dda186afa2cf3304bf |
| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-04-10T06:17:37Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-b147da54d44247dda186afa2cf3304bf2023-03-02T05:53:13ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-03-011310.3389/fonc.2023.10988761098876Case report: A novel mutation in RTEL1 gene in dyskeratosis congenitaHaider Nisar0Memoona Khan1Qamar Un Nisa Chaudhry2Qamar Un Nisa Chaudhry3Raheel Iftikhar4Tariq Ghafoor5Adult and Pediatric Transplant Unit, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, PakistanPathology Department and Stem Cell Research Lab, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, PakistanAdult and Pediatric Transplant Unit, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, PakistanPathology Department and Stem Cell Research Lab, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, PakistanAdult and Pediatric Transplant Unit, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, PakistanAdult and Pediatric Transplant Unit, Armed Forces Bone Marrow Transplant Center/National Institute of Bone Marrow Transplant, Rawalpindi, PakistanDyskeratosis 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.https://www.frontiersin.org/articles/10.3389/fonc.2023.1098876/fulldyskeratosis congenitaheterozygousmutationRTEL1telomere biology disorders |
| spellingShingle | Haider Nisar Memoona Khan Qamar Un Nisa Chaudhry Qamar Un Nisa Chaudhry Raheel Iftikhar Tariq Ghafoor Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita Frontiers in Oncology dyskeratosis congenita heterozygous mutation RTEL1 telomere biology disorders |
| title | Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita |
| title_full | Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita |
| title_fullStr | Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita |
| title_full_unstemmed | Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita |
| title_short | Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita |
| title_sort | case report a novel mutation in rtel1 gene in dyskeratosis congenita |
| topic | dyskeratosis congenita heterozygous mutation RTEL1 telomere biology disorders |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1098876/full |
| work_keys_str_mv | AT haidernisar casereportanovelmutationinrtel1geneindyskeratosiscongenita AT memoonakhan casereportanovelmutationinrtel1geneindyskeratosiscongenita AT qamarunnisachaudhry casereportanovelmutationinrtel1geneindyskeratosiscongenita AT qamarunnisachaudhry casereportanovelmutationinrtel1geneindyskeratosiscongenita AT raheeliftikhar casereportanovelmutationinrtel1geneindyskeratosiscongenita AT tariqghafoor casereportanovelmutationinrtel1geneindyskeratosiscongenita |