Gene/phenotype/disorder under study
STT3A (OMIM # 619714 / ORPHA 370921)
Abstract
Recent publications have identified a dominant congenital disorder of glycosylation caused by heterozygous variants in STT3A, expanding the inheritance pattern of STT3A-CDG beyond the previously described autosomal recessive condition.
We aim collect clinical, biochemical, and molecular data from individuals carrying heterozygous (likely) pathogenic variants in STT3A in order to better delineate the clinical and biochemical phenotype of dominant STT3A-CDG, improve recognition and diagnosis of this condition, and increase the number of reported patients to advance knowledge of its phenotypic spectrum.
Coordinating clinician
Laura Trujillano – carmenlaura.trujillano@vallhebron.cat
Institution
Department of Clinical and Molecular Genetics, Vall d’Hebron Hospital, Barcelona
Specific requirements beyond clinical data and genotype data sharing:
1- Re-analysis of DNA samples: No
2- Resampling of patients: No
3- Linked to a translational/basic research project: No