Palmoplantar keratoderma and erythrokeratodermas
Gene: AQP5
Comment when marking as ready: Green review, >3 cases, and MOI confirmed by OMIM.Created: 13 Mar 2017, 9:07 a.m.
Comment on list classification: Updated rating from Amber to Green: 1 Green expert review plus >3 cases supporting causation.Created: 13 Mar 2017, 9:06 a.m.
Comment on list classification: Updated rating from Red to Amber ready for Expert review. >3 unrelated cases of AQP5 mutations linked to Palmoplantar keratoderma (PPK) in at least UK, Danish, Swedish and Chinese families.Created: 10 Jan 2017, 2:54 p.m.
PMID:23867895 (Cao et al., 2014) report a Chinese family with PPKB, including 10 affected individuals. The proband was a 28 year old man. Exome sequencing in 3 indiciduals (2 affected and 1 non-affected) detected variants in AQP5 and SLC4A8. Only the missense AQP5 mutation (c.367A>T, p.Asn123Tyr) segregated with the PPKB phenotype in all 23 family members.Created: 10 Jan 2017, 2:51 p.m.
>3 AQP5 variants listed in OMIM for 'Palmoplantar keratoderma, Bothnian type' (PPKB, OMIM:600231) from PMID:23830519, Blaydon et al., 2013) and profile Swedish and UK families. The A38E mutation (c.113C-A transversion) represents a founder mutation and is found in individuals of 7 Swedish families affected with PPKB.Created: 10 Jan 2017, 2:47 p.m.
PMID:27255181 (Kroigard et al., 2016) report a Danish family with diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type caused by a heterozygous c.562C>T / p.Arg188Cys mutation in the AQP5 gene. The Proband was a 36 year old male, and the proband's 8-year old son (who exhibits a similar phenotype) was found to be heterozygous for the same AQP5 mutation.Created: 10 Jan 2017, 2:46 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).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Model of inheritance for gene AQP5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
AQP5 was created by ellenmcdonagh
AQP5 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Radboud University Medical Center, Nijmegen