Ectodermal Dysplasia
Gene: CST6
2nd family with 2 siblings (Chinese origin) with dry skin, desquamation and abnormal keratosis without hypotrichosis. WES identified homozygous loss-of-function mutation (p.Gly84Asp) in the CST6 gene (coding for Cystatin M/E). Further fluorimetric enzyme assays demonstrated the mutant cystatin M/E protein lost its inhibitory function on the protease activity of cathepsins. The corresponding mutation in mice resulted in excessive cornification, desquamation, impaired skin barrier function, and abnormal proliferation and differentiation of keratinocytes.Created: 3 Feb 2023, 6:08 a.m. | Last Modified: 3 Feb 2023, 6:08 a.m.
Panel Version: 0.77
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dry skin, desquamation and abnormal keratosis without hypotrichosis
Publications
One family with in vitro functional assaysCreated: 9 Mar 2020, 9:58 a.m. | Last Modified: 9 Mar 2020, 9:58 a.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ectodermal dysplasia 15, hypohidrotic/hair type MIM#618535
Publications
Gene: cst6 has been classified as Green List (High Evidence).
Phenotypes for gene: CST6 were changed from ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535 to Ectodermal dysplasia 15, hypohidrotic/hair type, 618535
Publications for gene: CST6 were set to 30425301
Gene: cst6 has been classified as Green List (High Evidence).
Gene: cst6 has been classified as Amber List (Moderate Evidence).
gene: CST6 was added gene: CST6 was added to Ectodermal Dysplasia_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: CST6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CST6 were set to 30425301 Phenotypes for gene: CST6 were set to ?Ectodermal dysplasia 15, hypohidrotic/hair type, 618535