Article
A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases.
Clinical genetics - 1 Jul 2021
Salvi Alexandra, Skrypnyk Cristina, Da Silva Nathalie, Urtizberea Jon Andoni, Bakhiet Moiz, Robert Catherine, Lévy Nicolas, Megarbané André, Delague Valérie, Bartoli Marc
Abstract excerpt
STIM1, the stromal interaction molecule 1, is the key protein for maintaining calcium concentration in the endoplasmic reticulum by triggering the Store Operated Calcium Entry (SOCE). Bi-allelic mutations in STIM1 gene are responsible for a loss-of-function in patients affected with a CRAC channelopathy syndrome in which severe combined immunodeficiency syndrome (SCID-like), autoimmunity, ectodermal dysplasia and...
Topics
- Adolescent
- Calcium
- Endoplasmic Reticulum
- Female
- Homozygote
- Humans
- Loss of Heterozygosity
- Male
- Muscle Hypotonia
- Mutation
- Neoplasm Proteins