Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations.

ABSTRACT:

Background

Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large heterogeneity of clinical symptoms and severities, the reason of which is not fully understood, and that cannot be anticipated in the diagnostic phase. In addition, little data is available for affected siblings, and this disease is largely undiagnosed in North Africa.

Methods

We report here the clinical description as well as genetic and functional characterization of eight Tunisian CS patients, including siblings. These patients, who belonged to six unrelated families, underwent complete clinical examination and biochemica

SUBMITTER: Chikhaoui A 

PROVIDER: S-EPMC8898519 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature