Publications by authors named "Marie-Laure Mathieu"
Article Synopsis
- The study assessed the effectiveness of the 20-item Motor Function Measure (MFM-20) in tracking changes in motor skills in young children (ages 2-7) with spinal muscular atrophy types 1 (SMA1) and 2 (SMA2) who were treated with nusinersen.
- It involved evaluating 22 SMA1 and 19 SMA2 patients over an average follow-up period of 17 months, measuring changes in various motor function domains.
- Results showed that both SMA1 and SMA2 patients experienced significant improvements in motor function, validating the MFM-20 as a useful tool for monitoring the effects of nusinersen treatment.
Article Synopsis
- F8 duplications, found on the X chromosome, can lead to various clinical outcomes, ranging from benign conditions to severe hemophilia A symptoms, depending on their location.
- The study aimed to analyze two significant duplications found in patients with severe intellectual disabilities but no bleeding disorders, using whole genome sequencing for detailed characterization.
- Results revealed complex genomic rearrangements in both patients, preserving an intact F8 gene, emphasizing the importance of using advanced genomic analysis to understand their genetic variations and improve genetic counseling.
Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new individuals with heterozygous EEF1A2 variants. We functionally validate multiple variants as protein-damaging using heterologous expression and complementation analysis.
View Article and Find Full Text PDFBackground: The role of deleterious copy number variations in schizophrenia is well established while data regarding pathogenic variations remain scarce. We report for the first time a case of schizophrenia in a child with a pathogenic mutation of the chromodomain helicase DNA binding protein 2 (CHD2) gene.
Case Presentation: The proband was the second child of unrelated parents.
Article Synopsis
- - Coffin-Siris syndrome (CSS) is a congenital disorder marked by distinctive facial features, intellectual disability, and underdeveloped fifth digits and nails, linked to genetic variants in the BAF chromatin-remodeling complex.
- - A study identified pathogenic variations in nine different BAF-related genes across 78 CSS patients, with ARID1B being the most frequently affected gene.
- - Among the findings, researchers discovered three copy number variations (CNVs), including a notable partial deletion of the SMARCB1 gene, and conducted a detailed analysis of its abnormal transcripts in one patient.
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
Eur J Paediatr Neurol
November 2018
Christianson syndrome (CS) is a X-linked neurodevelopmental disorder, including severe intellectual disability (ID), progressive microcephaly, ataxia, autistic behaviour (ASD), near absent speech, and epilepsy. Electrical status epilepticus in sleep (ESES) has been reported in two patients. We describe five male patients from three unrelated families with Christianson syndrome caused by a pathogenic nucleotide variation or a copy-number variation involving SLC9A6.
View Article and Find Full Text PDFWe report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects.
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