Epidermolysis bullosa
Gene: CAST
PMID: 25683118;
1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8)
-> RT-PCR of mRNA from this patient's skin demonstrated NMD
- 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*)
- 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37)
Sources: LiteratureCreated: 10 Aug 2020, 2:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)
Publications
Gene: cast has been classified as Green List (High Evidence).
Gene: cast has been classified as Green List (High Evidence).
gene: CAST was added gene: CAST was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAST were set to 25683118 Phenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295) Penetrance for gene: CAST were set to unknown Review for gene: CAST was set to GREEN