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

Molecular biology reports - 27 Feb 2024

Liu Meng-Wei, Hu Cheng-Feng, Jin Jie-Yuan, Xiang Rong, Fan Liang-Liang, Li Ya-Li, Zhu Lei

Abstract excerpt

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...

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PMID: 38411728
DOI: 10.1007/s11033-024-09235-9

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