Epidermolysis bullosa and congenital skin fragility

Gene: DSC3

I don't know

Ayub et al. (PMID:19765682) identified a homozygous nonsense mutation (c.2129T>G; p.Leu710*) in DSC3 in four siblings from a consanguineous Afghani family who presented with a new genodermatosis affecting hair and skin. PMID:31790667 identifies a further Egyptian individual with skin fragility and Hypotrichosis. As less than 3 unrelated individuals identified DSC3 will currently be rated as Amber.

Created: 12 Dec 2019, 2:37 p.m. | Last Modified: 12 Dec 2019, 2:37 p.m.

Panel Version: 0.24

This gene was part of a gene list collated by John McGrath, KCL and Veronica Kinsler, UCL, 17.Jun.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted:DSC3; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.

Created: 9 Sep 2019, 3:38 p.m. | Last Modified: 9 Sep 2019, 3:38 p.m.

Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
ereditary Hypotrichosis, Recurrent Skin Vesicles, skin fragility

Publications

• 19765682
• 31790667