First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

• Published in: BMC medical genetics Vol. 19; no. 1; p. 161
• Main Authors: Chebly, Alain, Corbani, Sandra, Abou Ghoch, Joelle, Mehawej, Cybel, Megarbane, André, Chouery, Eliane
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 10.09.2018; BioMed Central; BMC
• Subjects: Age; Aging; Cockayne; Cockayne syndrome; Deoxyribonucleic acid; DNA; DNA repair; DNA sequencing; Dwarfism; ERCC6; ERCC8; Gene mutation; Genes; Genetic aspects; Genetic research; Genotypes; Health aspects; Hearing loss; Hereditary diseases; Lebanon; Microcephaly; Microencephaly; Mutation; Neurological complications; Oxidative stress; Parents & parenting; Patients; Phenotypes; Photosensitivity; Proteins; RNA polymerase; Sanger sequencing; Signaling peptides and proteins; Stress response; Studies; Lebanon; CS; Cockayne; Lebanon; ERCC8; ERCC6; Sanger sequencing

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...