Cockayne Syndrome, Type A (ERCC8)
Cockayne syndrome type A is an autosomal recessive disorder caused by pathogenic variants in the ERCC8 gene. The onset of symptoms typically occurs within the first few years of life. This disorder is characterized by dwarfism, premature aged appearance, developmental delay, and progressive loss of vision and hearing. Most individuals are sensitive to UV rays from sunlight and even a short exposure can cause sunburn or blisters. Death typically occurs in the first or second decade of life, though individuals living into the third decade has been reported. Occasionally, pathogenic variants in ERCC8 may cause UV-sensitive syndrome 2 where individuals are unusually sensitive to UV rays from sunlight and even a small amount of exposure can lead to sunburn. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.