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- W2892010083 abstract "Cockayne Syndrome (CS) is a rare autosomal recessive disorder characterized by neurological and sensorial impairment, dwarfism, microcephaly and photosensitivity. CS is caused by mutations in ERCC6 (CSB) or ERCC8 (CSA) genes.Three patients with CS were referred to the Medical Genetics Unit of Saint Joseph University. Sanger sequencing of both ERCC8 and ERCC6 genes was performed: ERCC8 was tested in all patients while ERCC6 in one of them.Sequencing led to the identification of three homozygous mutations, two in ERCC8 (p.Y322* and c.843 + 1G > C) and one in ERCC6 (p.R670W). All mutations were previously reported as pathogenic except for the c.843 + 1G > C splice site mutation in ERCC8 which is novel.Molecular diagnosis was established in all patients included in our study. A genotype-phenotype correlation is discussed and a link, between mutations and some specific religious communities in Lebanon, is suggested." @default.
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- W2892010083 date "2018-09-10" @default.
- W2892010083 modified "2023-10-18" @default.
- W2892010083 title "First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene" @default.
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- W2892010083 doi "https://doi.org/10.1186/s12881-018-0677-7" @default.
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