Identification of two novel homozygous mutations in ERCC8 gene in two unrelated consanguineous families with Cockayne syndrome from Iran

Yousefipour, Farideh; Mahjoobi, Forouzandeh

doi:10.1016/j.cca.2021.08.015

Cited by 4 publications

(1 citation statement)

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“…Calmels and colleagues performed an interesting work on a large cohort of patients with Cockayne syndrome, and demonstrated that the human mutation spectrum of the CS genes is not yet saturated and that there is a plethora of genetic variants still to be identified, since a definitive correlation between genotype and phenotype is still missing ( Calmels et al, 2018 ). Recently, many novel csb variants associated with severe or mild clinical phenotypes ( Friedman et al, 2021 ; Yousefipour and Mahjoobi, 2021 ; Zayoud et al, 2021 ; Duong et al, 2022 ) have been identified by whole-genome and/or whole-exome sequencing. CS being a disease with no effective treatments or cure, the kind of molecular approach described above will open up new avenues for facilitating diagnosis and will likely improve the definition of the sketchy genotype-phenotype relationship in patients with CS.…”

Section: Future Perspectives and Strategies For Interventionmentioning

confidence: 99%

A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer

2022

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DNA repair genes are critical for preserving genomic stability and it is well established that mutations in DNA repair genes give rise to progeroid diseases due to perturbations in different DNA metabolic activities. Cockayne Syndrome (CS) is an autosomal recessive inheritance caused by inactivating mutations in CSA and CSB genes. This review will primarily focus on the two Cockayne Syndrome proteins, CSA and CSB, primarily known to be involved in Transcription Coupled Repair (TCR). Curiously, dysregulated expression of CS proteins has been shown to exhibit differential health outcomes: lack of CS proteins due to gene mutations invariably leads to complex premature aging phenotypes, while excess of CS proteins is associated with carcinogenesis. Thus it appears that CS genes act as a double-edged sword whose loss or gain of expression leads to premature aging and cancer. Future mechanistic studies on cell and animal models of CS can lead to potential biological targets for interventions in both aging and cancer development processes. Some of these exciting possibilities will be discussed in this review in light of the current literature.

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