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
• ISSN: 1471-2350; 1471-2350
• DOI: 10.1186/s12881-018-0677-7

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.