Palmoplantar Keratoderma and Erythrokeratoderma

Gene: RSPO1

Green List (high evidence)

Three individuals
- one from a large consanguineous Italian family affected by palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (NM_001242908.2(RSPO1):c.108dup (p.Ser37Glufs*9))
- a sporadic case affected by palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (Ex4 del)
- 40-year-old 46,XX SRY-negative woman with true hermaphroditism and palmoplantar keratoderma (NM_001242908.2(RSPO1):c.286+1G>A)

Animal model
- Chassot et al 2008 (PMID:18250098) concluded that Rspo1 is a key regulator of beta-catenin and Wnt4 activation in female sex determination.
- Tomizuka et al. 2008 (PMID:18250097) concluded that Rspo1 suppresses some aspects of male differentiation and is required to maintain oocyte survival, possibly by regulating the Wnt4 signaling pathway

Created: 21 Apr 2022, 12:02 a.m. | Last Modified: 21 Apr 2022, 12:02 a.m.

Panel Version: 0.114

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal MIM#610644; Palmoplantar hyperkeratosis and true hermaphroditism MIM#610644

Publications

• 17041600
• 18085567
• 18250098
• 18250097

Variants in this GENE are reported as part of current diagnostic practice