| Prevalence | Approximately 1 in 200,000 births in Western Europe (Kleijer et al., 2008) |
| Typical Onset | Later childhood to adolescence |
| Higher prevalence regions | Founder effects have been noted in some isolated populations |
| Sex distribution | Affects males and females equally (autosomal recessive) |
| Complementation groups | ~80% of patients belong to the CS-B group (ERCC6 mutations); ~20% to the CS-A group (ERCC8 mutations) |
| Carrier frequency | Estimated at approximately 1 in 250 in the general population |
| Key features | Milder growth failure, preserved intellectual function for longer periods, photosensitivity, and slowly progressive neurological symptoms |
| Course | Slower progression than Types I and II |
| Life expectancy | Can survive into the third decade or beyond |
| Genetics | Associated with hypomorphic mutations in either CSA or CSB |
| Structure | Contains 7 conserved ATPase motifs characteristic of SWI2/SNF2 DNA-stimulated ATPases |
| Function | CSB protein is a multifunctional protein involved in TC-NER, general transcription, chromatin remodeling, and mitochondrial maintenance |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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