A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Mol Biol Rep
; 51(1): 371, 2024 Feb 27.
Article
en En
| MEDLINE
| ID: mdl-38411728
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 ANDRESULTS:
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.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Síndrome de Cockayne
Límite:
Humans
Idioma:
En
Revista:
Mol Biol Rep
Año:
2024
Tipo del documento:
Article
País de afiliación:
China