Description:
COCKAYNE SYNDROME, TYPE A; CSA
EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; ERCC8
NIA AGING CELL REPOSITORY DNA PANEL - AGING SYNDROMES
|
Repository
|
No Data
|
| Subcollection |
Heritable Diseases |
|
License Required
|
No Data
|
| Class |
Repair Defective and Chromosomal Instability Syndromes |
|
Sample Source
|
No Data
|
|
Subject Type
|
No Data
|
|
Family Type
|
No Data
|
|
Ethnicity
|
No Data
|
|
Family Member
|
No Data
|
|
Genetic Data
|
No Data
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Gene |
CKN1 |
| Chromosomal Location |
Chr.5 |
| Allelic Variant 1 |
609412.0003; COCKAYNE SYNDROME, TYPE A |
| Identified Mutation |
GLU13TER; In a cell line from a patient with Cockayne syndrome type A (216400), Cao et al. (J Hum Genet 49:61-63, 2004) identified compound heterozygosity for 2 mutations in the ERCC8 gene: a 649G-C transversion, resulting in an ala205-to-pro (A205P) substitution, and E13X (609412.0003).
|
| |
| Gene |
CKN1 |
| Chromosomal Location |
Chr.5 |
| Allelic Variant 2 |
609412.0005; COCKAYNE SYNDROME, TYPE A |
| Identified Mutation |
ALA205PRO; In a cell line from a patient with Cockayne syndrome type A (216400), Cao et al. (J Hum Genet 49:61-63, 2004) identified compound heterozygosity for 2 mutations in the ERCC8 gene: a G-to-T transversion, resulting in a glu13-to-ter (E13X) substitution, and A205P (609412.0005). The patient was an 11-year-old girl with photophobia, dwarfism, mental retardation, cataracts, retinopathy, and optic atrophy. |
| Cao H, Williams C, Carter M, Hegele RA, CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism Journal of human genetics49:61-3 2003 |
| PubMed ID: 14661080 |
| |
| Sequin, Ultraviolet light-induced chromosomal aberrations in cultured cells from Cockayne syndrome & complementation group C xeroderma pigmentosum patients: Lack of correlation with cancer susceptibility. Am J Hum Genet42:468 (1988):61-3 1988 |
| PubMed ID: 14661080 |
|
|