Palmoplantar keratoderma and erythrokeratodermas
Gene: GJB6
Comment on list classification: Updated rating from Red to Green after discussion with Helen Brittain: Clouston syndrome phenotype includes PPK, and 3 unrelated cases of GJB6 variants supporting causation of Clouston syndrome.Created: 3 Apr 2017, 11:18 a.m.
PMID:27137747 (Yang et al., 2016) identify a heterozygous missense mutation c.263C>T (p.A88V) in GJB6 in a Chinese family with Clouston syndrome. Hyperkeratosis of the palms and soles was more severe in elderly patients than in younger ones.Created: 3 Apr 2017, 11:15 a.m.
Agarwal, 2016 (PMID:27643550) report a GJB6 mutation in an Indian man with Clouston syndrome.The patient had complaints of excessively thickened skin of the palms and soles. On examination, the patient was found to have severe hyperkeratosis of the palms and soles which led to clawing of the hands.Created: 23 Mar 2017, 10:51 a.m.
Smith et al, 2002 (PMID:11874494) report a novel mutation V37E in GJB6 in a spontaneous case of Clouston syndrome.Created: 23 Mar 2017, 10:49 a.m.
Ectodermal dysplasia (ECTD2; OMIM:129500), also known as Clouston syndrome is an autosomal dominant skin disorder caused by mutations in GJB6, and characterized by palmoplantar hyperkeratosis, hair defects (from partial to total alopecia), nail hypoplasia, and nail deformities.Created: 22 Feb 2017, 5:45 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).
Publications for GJB6 were set to 8845850; 11874494
Mode of inheritance for GJB6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for GJB6 were set to 8845850
GJB6 was created by rfoulger
GJB6 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Other