Publications by authors named "Anxhela Gjyshi Gustafson"
We identified a de novo heterozygous transient receptor potential cation channel subfamily M (melastatin) member 3 () missense variant, p.(Asn1126Asp), in a patient with developmental delay and manifestations of cerebral palsy (CP) using phenotype-driven prioritization analysis of whole-genome sequencing data with Exomiser. The variant is localized in the functionally important ion transport domain of the TRPM3 protein and predicted to impact the protein structure.
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- Multiple pterygium syndrome (MPS) is a rare genetic disorder causing joint issues and distinctive facial features, with two main types: lethal and nonlethal, both often leading to spine deformities like scoliosis.
- A study involved 12 patients from 11 families, with molecular diagnoses confirmed in seven, showing varying degrees of scoliosis severity, from mild to malignant.
- Treatment approaches included bracing and spine casting, but more severe cases may require non-fusion spinal instrumentation; ongoing monitoring is crucial for managing their condition.
Article Synopsis
- - Arthrogryposis multiplex congenita (AMC) is a condition with non-progressive congenital contractures affecting multiple body areas, and about 20% of affected children also experience scoliosis, which is a significant spinal curvature.
- - Researchers explored the DECIPHER database for genetic mutations associated with both AMC and scoliosis, identifying only two patients with shared characteristics and highlighting specific genes with copy number variations (CNVs) related to both conditions.
- - A total of 227 genes were found to be associated with AMC and scoliosis, pointing to diverse cellular functions such as gene regulation and growth factors, paving the way for future genomic research to identify potential treatments and prognostic markers.