Cockayne syndrome

Genetic types

• CS-A: this is caused by mutations in the ERCC8 gene on chromosome 5
• CS-B: this is caused by mutations in the ERCC6 gene on chromosome 10
• Some cases may be caused by MORC2 gene mutations

References

1. Arenas-Sordo Mde L, Hernández-Zamora E, Montoya-Pérez LA, Aldape-Barrios BC. Cockayne's syndrome: a case report. Literature review. Med Oral Patol Oral Cir Bucal 2006; 11:E236-E238.
2. Karikkineth AC, Scheibye-Knudsen M, Fivenson E, Croteau DL, Bohr VA. Cockayne syndrome: clinical features, model systems and pathways. Ageing Res Rev 2017; 33:3-17. 
3. Pasquier L, Laugel V, Lazaro L, et al. Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. Arch Dis Child 2006; 91:178-182.
4. Laugel V. Cockayne syndrome: the expanding clinical and mutational spectrum. Mech Ageing Dev 2013; 134:161-170.
5. Saini AG, Sankhyan N, Vyas S, Laugel V, Calmels N, Singhi P. Teaching NeuroImages: The syndrome of cutaneous photosensitivity, growth failure, and basal ganglia calcification. Neurology. 2016; 87:e56-57.
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