Publications by authors named "Anne-Sophie Alaix"
Article Synopsis
- Pathogenic variants in the MYT1L gene lead to a neurodevelopmental disorder characterized by features like developmental delays, intellectual disabilities, and behavioral disorders.
- A study analyzed genetic data from 40 previously unreported patients, adding to a total of 62 patients to better understand the clinical characteristics and genotype-phenotype correlations.
- The research confirmed key phenotypic traits, introduced new clinical features, and emphasized that patients with certain genetic variants do not show distinct clinical differences, aiding in improved diagnosis and management of the disorder.
Article Synopsis
- Subcellular membranes are rich in dolichol, important for protein glycosylation, but its exact role in organelle function and the endosomal-lysosomal pathway is still unclear.
- Variants in the DHDDS gene, which is essential for dolichol production, are linked to a form of retinitis pigmentosa and various neurodevelopmental disorders, causing symptoms like epilepsy and movement issues in affected patients.
- Clinical studies showed that patients with DHDDS mutations experienced neurological decline, cognitive issues, and changes in their lysosomal function, suggesting that these variants primarily affect the enzyme's active site and disrupt normal cell processes.
We identified three cases of congenital disorders of glycosylation (CDG) with Golgi homeostasis disruption, one ATP6V0A2-CDG and two COG4-CDG, with normal transferrin screening analyses. Patient 1 (P1) presented at birth with cutis laxa. Patient 2 (P2) and patient 3 (P3) are adult siblings and presented with severe symptoms evocative of inborn errors of metabolism.
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