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BMC Medical Genetics
Published in: BMC Medical Genetics 1/2018

Open Access 01-12-2018 | Research article

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

Authors: Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery

Published in: BMC Medical Genetics | Issue 1/2018

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Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.
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Metadata
Title
First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
Authors
Alain Chebly
Sandra Corbani
Joelle Abou Ghoch
Cybel Mehawej
André Megarbane
Eliane Chouery
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2018
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/s12881-018-0677-7

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