Short Communication
Journal of Human Genetics (2004) 49, 61–63; doi:10.1007/s10038-003-0107-2
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism
Henian Cao1, Christina Williams1, Monica Carter1 and Robert A Hegele1,2
- 1Robarts Research Institute, London, Ontario, N6A 5K8, Canada
- 2Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, N6A 5K8, Canada
Correspondence: Robert A Hegele, Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 Perth Drive, London, Ontario, N6A 5K8, Canada. Fax: +1-519-6633037. E-mail: hegele@robarts.ca
Received 14 July 2003; Accepted 31 October 2003; Published online 6 December 2003.
Abstract
We found that a subject with Cockayne syndrome type A was a compound heterozygote for two new mutations in CKN1 (MIM 216400): a missense mutation (A205P) and a nonsense (E13X) mutation. We also identified and characterized a new common single nucleotide polymorphism in CKN1 in five groups.
Keywords:
Aging, DNA repair, Developmental delay, Dwarfism, Photosensitivity
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