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

ERCC8 related Cockayne syndrome type-1

Authors

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.

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References

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Published

2023-10-10

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Case Report

How to Cite

1.
Kocagil S, Keklikci AR, Aydemir Y, Çilingir O, Aynacı S, Erzurumluoğlu Gökalp E, Durak Aras B, Artan S. ERCC8 related Cockayne syndrome type-1: A rare entity diagnosed in a Turkish boy : ERCC8 related Cockayne syndrome type-1. J Surg Med [Internet]. 2023 Oct. 10 [cited 2024 May 25];7(10):719-21. Available from: https://jsurgmed.com/article/view/7380