Publications by authors named "Fatima M Bostanova"
Background: Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is an inherited disease caused by pathogenic biallelic variants in the gene , which encodes mitochondrial aspartyl-tRNA synthetase. This disease is characterized by slowly progressive spastic gait, cerebellar symptoms, and leukoencephalopathy with brainstem and spinal cord involvement.
Case Presentation: Peripheral blood samples were collected from four patients from four unrelated families to extract genomic DNA.
Article Synopsis
- Bi-allelic pathogenic variations in a specific gene are linked to various hereditary disorders, including the rare Wiedemann-Rautenstrauch syndrome (WRS), which shows neonatal symptoms like growth issues and distinctive facial features.
- This study details a clinical case of a 7-year-old girl with WRS, where whole-exome sequencing revealed a novel missense variant and two intronic variants associated with the condition.
- The findings confirm the pathogenic nature of these genetic changes, contributing to the understanding of POLR3A-related disorders and highlighting the need for further research in the area.