A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndrome.
Cockayne syndrome
ERCC8
Heterozygous mutation
Journal
Molecular biology reports
ISSN: 1573-4978
Titre abrégé: Mol Biol Rep
Pays: Netherlands
ID NLM: 0403234
Informations de publication
Date de publication:
27 Feb 2024
27 Feb 2024
Historique:
received:
08
11
2023
accepted:
09
01
2024
medline:
27
2
2024
pubmed:
27
2
2024
entrez:
27
2
2024
Statut:
epublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND
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
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
CONCLUSIONS
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.
Identifiants
pubmed: 38411728
doi: 10.1007/s11033-024-09235-9
pii: 10.1007/s11033-024-09235-9
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
371Subventions
Organisme : Innovation Foundation for Postgraduate of Central South University
ID : 1053320220863
Organisme : the Clinical Medical Personnel Training Program of Hebei Provincial Health Commission
ID : Ya-Li Li
Organisme : Inner Mongolia Science and Technology Innovation Guidance Project
ID : NM-KJCXYD-018
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer Nature B.V.
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