A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome

Mol Biol Rep. 2024 Feb 27;51(1):371. doi: 10.1007/s11033-024-09235-9.

Abstract

Background: Cockayne syndrome is an inherited heterogeneous defect in transcription-coupled DNA repair (TCR) cause severe clinical syndromes, which may affect the nervous system development of infants and even lead to premature death in some cases. ERCC8 diverse critical roles in the nucleotide excision repair (NER) complex, which is one of the disease-causing genes of Cockayne syndrome.

Methods and results: The mutation of ERCC8 in the patient was identified and validated using WES and Sanger sequencing. Specifically, a compound heterozygous mutation (c.454_460dupGTCTCCA p. T154Sfs*13 and c.755_759delGTTTT p.C252Yfs*3) of ERCC8 (CSA) was found, which could potentially be the genetic cause of Cockayne syndrome in the proband.

Conclusion: In this study, we identified a novel heterozygous mutation of ERCC8 in a Chinese family with Cockayne syndrome, which enlarging the genetic spectrum of the disease.

Keywords: Cockayne syndrome; ERCC8; Heterozygous mutation.

MeSH terms

  • Asian People
  • Cell Nucleus
  • Cockayne Syndrome* / genetics
  • DNA Repair Enzymes / genetics
  • Excision Repair
  • Humans
  • Mutation / genetics
  • Transcription Factors

Substances

  • DNA Repair Enzymes
  • ERCC8 protein, human
  • Transcription Factors