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