Palmoplantar keratoderma and erythrokeratodermas
Gene: RSPO1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
palmoplantar keratoderma; SCC of skin; sex reversal
Comment on list classification: Updated rating from Amber to Green: 1 green review plus sufficient (3) cases to support causation of PPK phenotype.Created: 20 Mar 2017, 12:36 p.m.
Comment on list classification: Updated rating from Red to Amber ready for external review. 3 unrelated cases of RSPO1 mutations linked to OMIM:610644.Created: 10 Jan 2017, 4:45 p.m.
In a 40-year-old 46, XX SRY-negative woman with true hermaphroditism and palmoplantar keratoderma (OMIM:610644), whose parents were first cousins, Tomaselli et al. (2008, PMID:18085567) identified homozygosity for a 286+1G-A transition altering the splice donor site in intron 5 of the RSPO1 gene.Created: 10 Jan 2017, 4:42 p.m.
In a sporadic case of palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (610644), Parma et al. (2006) identified a homozygous deletion of 2,752 bp, including exon 4 and part of the adjacent introns.
Created: 10 Jan 2017, 4:41 p.m.
In a consanguineous family from southern Italy affected by palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal (610644), Parma et al. (2006, PMID:17041600) found a homozygous 1 bp insertion (896G) in the RSPO1 gene. The mutation resulted in a frameshift and stop codon after 10 amino acids.
Created: 10 Jan 2017, 4:41 p.m.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for RSPO1 were set to Palmoplantar hyperkeratosis and true hermaphroditism, 610644; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, 610644; palmoplantar keratoderma
This gene has been classified as Green List (High Evidence).
Mode of inheritance for RSPO1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
RSPO1 was created by rfoulger
RSPO1 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen