The SGCE gene is associated with autosomal dominant myoclonic dystonia (DYT11) (MedGen UID: 331778). Additionally, the SGCE gene has preliminary evidence supporting a correlation with autosomal dominant generalized epilepsy (PMID: 15389977, 24297365).
SGCE is the most common cause of myoclonus-dystonia. In one study, SGCE pathogenic variants were found in 16 of 76 unrelated French Caucasian patients with myoclonus-dystonia or essential myoclonus. Other genes that are known to cause this disorder are DRD2 and DYT1.
The SGCE gene provides instructions for making a protein called epsilon (Ã«Âµ)-sarcoglycan, whose function is unknown. The Ã«Âµ-sarcoglycan protein is found within the cell membranes of the lungs, liver, kidneys, and spleen, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. Researchers suspect that in the brain the Ã«Âµ-sarcoglycan protein plays a role in the functioning of synapses, which are the connections between neurons where cell-to-cell communication occurs. People inherit one copy of most genes from their mother and one copy from their father. Both copies are typically active, or “turned on,” in cells. The SGCE gene, however, is active only when it is inherited from a person’s father. This sort of parent-specific difference in gene activation is caused by a phenomenon called genomic imprinting.
Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).
Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.
Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.
|Gene||Transcript reference||Sequencing analysis||Deletion/Duplication analysis|