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

Kocagil S., Keklikci A. R., Aydemir Y., Çilingir O., Aynacı S., Erzurumluoğlu Gökalp E., ...Daha Fazla

Journal of Surgery and Medicine, cilt.7, sa.10, ss.719-721, 2023 (Hakemli Dergi)

  • Yayın Türü: Makale / Vaka Takdimi
  • Cilt numarası: 7 Sayı: 10
  • Basım Tarihi: 2023
  • Doi Numarası: 10.28982/josam.7380
  • Dergi Adı: Journal of Surgery and Medicine
  • Derginin Tarandığı İndeksler: EBSCO Education Source
  • Sayfa Sayıları: ss.719-721
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

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.