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CTSB – Keratolytic Winter Erythema

Candidate gene analysis in multiple South African keratolytic winter erythema (KWE) families (autosomal dominant) screened the coding regions, 5′ UTRs, and intron–exon boundaries of CTSB. No DNA variants segregating with KWE were identified, and real-time RT-PCR of CTSB in palmoplantar skin biopsies showed no significant expression differences between affected and unaffected individuals (PMID:21945151). These data refute CTSB as a causal gene in keratolytic winter erythema.

Key take-home: There is no genetic or functional evidence supporting a role for CTSB in the pathogenesis of keratolytic winter erythema.

References

  • Journal of dermatological science | 2012 | Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE) PMID:21945151

Evidence Based Scoring (AI generated)

Gene–Disease Association

Refuted

Comprehensive mutation screening in multiple autosomal dominant KWE families revealed no CTSB variants segregating with disease; expression analyses in patient skin biopsies showed no differential CTSB expression (PMID:21945151).

Genetic Evidence

Refuted

Mutation screening of CTSB in multiple KWE probands identified no segregating variants, excluding genetic association (PMID:21945151).

Functional Evidence

Limited

RT-PCR expression profiling of CTSB in palmoplantar skin biopsies showed no significant difference between affected and unaffected individuals (PMID:21945151).