Publications by authors named "A Masurel-Paulet"
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Frederic Tran Mau-Them Sebastien Moutton Caroline Racine Antonio Vitobello Ange-Line Bruel Alice Masurel-Paulet
Hum Genet
November 2020
Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved in human genetic disorders, the majority of patients affected by DD remain undiagnosed after solo-cES. Trio-based strategy is expected to facilitate variant selection thanks to rapid parental segregation.
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- * A recent study evaluated MRI data from unreported individuals with TBR1 variants and found structural brain anomalies, like a reduced anterior commissure and dysplastic hippocampus, which were compared to observations in mutant mice.
- * The findings indicate that TBR1 variants are associated with ID and autistic traits, providing insights into genetic counseling and early diagnosis for individuals with ASD.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
Caroline Schluth-Bolard Flavie Diguet Nicolas Chatron Pierre-Antoine Rollat-Farnier Claire Bardel Alice Masurel-Paulet
J Med Genet
August 2019
Article Synopsis
- A study investigated balanced chromosomal rearrangements in patients with intellectual disabilities and congenital anomalies using next-generation sequencing to identify breakpoints at a molecular level.
- The research characterized breakpoints in 55 patients, revealing that 89% of chromosomal rearrangements were detected, with non-homologous end-joining identified as the primary repair mechanism.
- The study found that a diagnosis could be established in about 44.8% of patients, revealing disruptions in genes and suggesting that paired-end whole genome sequencing is effective for clinical applications in structural variation analysis.
Article Synopsis
- * Analysis of data from over 16,000 patients reveals key clinical features, such as speech delays, learning disabilities, and a noted increase in cardiovascular disease risk, with most duplications inherited from parents.
- * The research suggests that 16p13.11 microduplications are likely harmful in the context of neurocognitive disorders, indicating that further cardiac evaluations are necessary and highlighting the significance of specific genetic factors like miR-484.
Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome.
Am J Med Genet C Semin Med Genet
December 2017
Article Synopsis
- CHARGE syndrome (CS) is a genetic disorder characterized by features such as coloboma, heart disease, and hearing problems, primarily linked to mutations in the CHD7 gene.
- A study analyzed 119 patients with CS, revealing pathogenic CHD7 variants in 83% of typical cases and 58% of atypical cases, confirming a strong correlation between genotype and phenotype.
- Common symptoms included hearing loss (94%), pituitary defects (89%), and ear anomalies (87%), while less frequent traits were coloboma (73%) and heart defects (65%).