ERCC8 related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy : ERCC8 related Cockayne syndrome type-1

Sinem Kocagil; Ali Rıza Keklikci; Yusuf Aydemir; Oğuz Çilingir; Sabri Aynacı; Ebru Erzurumluoğlu Gökalp; Beyhan Durak Aras; Sevilhan Artan

doi:10.28982/josam.7380

Authors

Sinem Kocagil Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0003-2595-3919
Ali Rıza Keklikci Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0001-7370-1594
Yusuf Aydemir Eskisehir Osmangazi University, Faculty of Medicine, Department of Pediatrics, Eskisehir, Turkey https://orcid.org/0000-0003-3318-2747
Oğuz Çilingir Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0002-5593-4164
Sabri Aynacı Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0001-8172-7436
Ebru Erzurumluoğlu Gökalp Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0002-1275-5174
Beyhan Durak Aras Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0003-1881-1912
Sevilhan Artan Eskisehir Osmangazi University, Faculty of Medicine, Department of Medical Genetics, Eskisehir, Turkey https://orcid.org/0000-0001-7658-6309

DOI:

https://doi.org/10.28982/josam.7380

Keywords:

Cockayne syndrome, ERCC8 gene, novel variant

Abstract

Cockayne syndrome (CS, OMIM #216400 and OMIM #133540) is a rare, progressive, multisystemic disorder that results in premature aging and cachectic dwarfism. It is an autosomal recessive disorder with a prevalence of 2-2.5 per million. Pathogenic variants detected in the ERCC excision repair 6 (ERCC6) and ERCC excision repair 8 (ERCC8) genes are responsible for molecular pathogenesis. In this case report, an 11-year-old boy with severe microcephaly, growth retardation, loss of subcutaneous fat tissue, neuromotor developmental delay, bilateral cataracts, and facial dysmorphism but without dermal photosensitivity, who had a novel missense variant in trans configuration with a nonsense variant is presented.

Downloads

Download data is not yet available.

References

Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Cockayne syndrome: Clinical features, model systems and pathways. Ageing Res Rev. 2017;33:3–17. DOI: https://doi.org/10.1016/j.arr.2016.08.002

Kubota M, Ohta S, Ando A, Koyama A, Terashima H, Kashii H, et al. Nationwide survey of Cockayne syndrome in Japan: Incidence, clinical course and prognosis. Pediatr Int. 2015;57(3):339–47. DOI: https://doi.org/10.1111/ped.12635

Natale V. A comprehensive description of the severity groups in Cockayne syndrome. Am J Med Genet Part A. 2011;155(5):1081–95. DOI: https://doi.org/10.1002/ajmg.a.33933

Chikhaoui A, Kraoua I, Calmels N, Bouchoucha S, Obringer C, Zayoud K, et al. Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations. Orphanet J Rare Dis. 2022;17(1):1–14. DOI: https://doi.org/10.1186/s13023-022-02257-1

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med [Internet]. 2015;17(5):405–24. Available from: https://doi.org/10.1038/gim.2015.30 DOI: https://doi.org/10.1038/gim.2015.30

Cockayne EA. Dwarfism with retinal atrophy and deafness. Arch Dis Child. 1946;21(105):52–4. DOI: https://doi.org/10.1136/adc.21.105.52

Nance MA, Berry SA. Cockayne Syndrome: Review of 140 cases. Am J Med Genet. 1992;42(1):68–84. DOI: https://doi.org/10.1002/ajmg.1320420115

Wilson BT, Stark Z, Sutton RE, Danda S, Ekbote AV, Elsayed SM, et al. The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care. Genet Med. 2016;18(5):483–93. DOI: https://doi.org/10.1038/gim.2015.110

Spitz MA, Severac F, Obringer C, Baer S, Le May N, Calmels N, et al. Diagnostic and severity scores for Cockayne syndrome. Orphanet J Rare Dis. 2021;16(1):1–10. DOI: https://doi.org/10.1186/s13023-021-01686-8

Frouin E, Laugel V, Durand M, Dollfus H, Lipsker D. Dermatologic findings in 16 patients with cockayne syndrome and cerebro-oculo-facial-skeletal syndrome. JAMA Dermatology. 2013;149(12):1414–8. DOI: https://doi.org/10.1001/jamadermatol.2013.6683

Laugel V. Cockayne Syndrome Summary Genetic counseling GeneReview Scope. 2020;1–19.

Calmels N, Botta E, Jia N, Fawcett H, Nardo T, Nakazawa Y, et al. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. J Med Genet. 2018;55(5):329–43. DOI: https://doi.org/10.1136/jmedgenet-2017-104877