Mutations in STAC3 gene lead to muscle defects at birth
Sequencing of 18 patients with severe myopathy pointed to the gene STAC3 as one of the factors contributing to the disease.
Nearly all individuals with onset of the disease from the birth had the same variant c.851G>C p.(Trp284Ser) in exon 10 of STAC3. This mutation influences structure of a protein produced on a basis of the gene. Protein SH3 and cysteine-rich domain-containing (3) acts as an essential element of governing calcium levels in muscle tissue.
Researchers propose new name for disease specifically associated with the gene: STAC3-related congenital myopathy.
More: “STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility”, I. Zaharieva et al., 2018, doi:10.1002/humu.23635.