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Exome sequencing revealed a novel deletion in the ERCC8 gene in an Iranian family with Cockayne syndrome |
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| Authors: | J. Mohammadi‐asl M. Hajjari M. Tahmasebi Birgani K. Riahi H. Nasiri A. Kollaee |
| Affiliation: | 1. Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran;2. Noor Genetics Lab, Ahvaz, Iran;3. Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran;4. Research Center of Thalasemia and Hemoglobinopathy, Ahvaz Jundishapur university of Medical Sciences, Ahvaz, Iran;5. Pediatric Department, Ahvaz Jundishapur University of Medical Sciences, Golestan Hospital, Golestan, Ahvaz, Iran;6. Departement of Medical Genetics, Nika center of Health promotion and prevention Medicine, Tehran, Iran |
| Abstract: | Cockayne syndrome (CS) is one the rare DNA‐repair deficiency disorders with autosomal recessive inheritance. Failure to thrive and microcephaly are the major criteria of diagnosis. Owing to genetic heterogeneity of CS, whole exome sequencing is promising way to determine the genetic basis of the disease. Here, we present c.1053delT in ERCC8 gene in an Iranian family with symptom of CS using whole exome sequencing. The deletion was novel and was not previously reported elsewhere. |
| Keywords: | Cockayne syndrome Deletion DNA‐repair deficiency disorders ERCC8 Whole exome sequencing |