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GENATLAS PHENOTYPE
last update : 01-09-2015
Symbol CKN1
Location 5q12.2
Name Cockayne syndrome, type A
Corresponding gene ERCC8
Other symbol(s) CSPA, CSA
Main clinical features
  • characterized by mental retardation, premature ageing, retinitis pigmentosa, deafness and dwarfism,
  • abnormal and slow growth and development that becomes evident within the first few years after birth; 'Cachectic dwarfism' describes the outward appearance of afflicted individuals
  • cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient
  • complementation group A (CSA defect, with defective strand specific repair of
  • transcriptionally active genes)
    Genetic determination autosomal recessive
    Prevalence . 20p 100 of Cockayne syndrome (CS) cases
    Function/system disorder connective tissue
    eye
    mental retardation
    Type disease
    Gene product
    Name WD-40 repeat protein, nucleotide excision repair (CKN1)
    Remark(s)