Publications by authors named "Louise Goujon"
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding U4, cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants in 50 snRNA-encoding genes in a French cohort of 23,649 individuals with rare disorders and gathered additional cases through international collaborations.
View Article and Find Full Text PDFLessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Mol Genet Genomic Med
January 2024
Article Synopsis
- The study analyzes data from two groups of individuals with DDX3X variations, one from physicians (48 individuals) and the other from caregivers (44 individuals).
- The results reveal shared symptoms between the two groups, including previously unreported early childhood issues like feeding difficulties and delayed developmental milestones.
- The discussion emphasizes that both datasets complement each other, highlighting the importance of addressing symptoms such as ADHD, anxiety, and sleep disturbances in affected individuals.
Article Synopsis
- - Pediatric acute liver failure (PALF) is a serious condition with up to 50% of cases remaining unexplained, hindering effective treatment options like liver transplantation.
- - In a study involving 260 children from 19 countries, whole-exome sequencing (WES) identified genetic causes in 37% of indeterminate PALF cases, with a particularly high diagnostic rate in infants and those with recurrent liver failure.
- - The research uncovered 36 distinct genes associated with PALF, highlighting mitochondrial diseases as the most common cause and underscoring the need for advanced genetic testing in diagnosing and treating this condition.
Expanding the phenotype of GTF2E2-associated trichothiodystrophy.
J Eur Acad Dermatol Venereol
March 2024
Objectives: Patients with PMM2-CDG develop acute events (stroke-like episodes (SLEs), thromboses, haemorrhages, seizures, migraines) associated with both clotting factors (factor XI) and coagulation inhibitors (antithrombin, protein C and protein S) deficiencies. The aim of the study was to correlate acute events to haemostasis and propose practical guidelines.
Methods: In this multicentric retrospective study, we evaluated clinical, radiological, haemostasis and electroencephalography data for PMM2-CDG patients hospitalized for acute events.
Ganglioside-monosialic acid (GM1) gangliosidosis, a rare autosomal recessive disorder, is frequently caused by deleterious single nucleotide variants (SNVs) in gene. These variants result in reduced β-galactosidase (β-gal) activity, leading to neurodegeneration associated with premature death. Currently, no effective therapy for GM1 gangliosidosis is available.
View Article and Find Full Text PDFPurpose: Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental manifestations of MTOR-related HI.
View Article and Find Full Text PDFHydrogen sulfide, a signaling molecule formed mainly from cysteine, is catabolized by sulfide:quinone oxidoreductase (gene SQOR). Toxic hydrogen sulfide exposure inhibits complex IV. We describe children of two families with pathogenic variants in SQOR.
View Article and Find Full Text PDFArticle Synopsis
- * Traditional genetic testing has low success rates in diagnosing this condition, leading to numerous unsolved cases, prompting a study on the potential for multiple genetic mutations (oligogenic inheritance) contributing to the disorder.
- * The research analyzed 26 families with unresolved holoprosencephaly and identified significant genetic variants linked to critical pathways in brain development, indicating that oligogenic combinations are more common in these patients than in control groups, suggesting a new avenue for understanding the condition.