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  1. Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation

    International audience ; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the... mehr

     

    International audience ; Purpose: Abnormality of the corpus callosum (AbnCC) is etiologically a heterogeneous condition and the prognosis in prenatally diagnosed cases is difficult to predict. The purpose of our research was to establish the diagnostic yield using chromosomal microarray (CMA) and exome sequencing (ES) in cases with prenatally diagnosed isolated (iAbnCC) and nonisolated AbnCC (niAbnCC).Methods: CMA and prenatal trio ES (pES) were done on 65 fetuses with iAbnCC and niAbnCC. Only pathogenic gene variants known to be associated with AbnCC and/or intellectual disability were considered.Results: pES results were available within a median of 21.5 days (9-53 days). A pathogenic single-nucleotide variant (SNV) was identified in 12 cases (18%) and a pathogenic CNV was identified in 3 cases (4.5%). Thus, the genetic etiology was determined in 23% of cases. In all diagnosed cases, the results provided sufficient information regarding the neurodevelopmental prognosis and helped the parents to make an informed decision regarding the outcome of the pregnancy.Conclusion: Our results show the significant diagnostic and prognostic contribution of CMA and pES in cases with prenatally diagnosed AbnCC. Further prospective cohort studies with long-term follow-up of the born children will be needed to provide accurate prenatal counseling after a negative pES result.

     

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    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 1098-3600 ; EISSN: 1530-0366 ; Genetics in Medicine ; https://www.hal.inserm.fr/inserm-03842586 ; Genetics in Medicine, 2020, 22 (11), pp.1887-1891. ⟨10.1038/s41436-020-0872-8⟩
    Schlagworte: agenesis of the corpus callosum; anomaly of the corpus callosum; exome sequencing; prenatal; prenatal exome sequencing; MESH: Child; MESH: Corpus Callosum; MESH: Exome; MESH: Female; MESH: Fetus; MESH: Humans; MESH: Pregnancy; MESH: Prospective Studies; MESH: Ultrasonography; [SDV]Life Sciences [q-bio]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
  2. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

    International audience ; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for... mehr

     

    International audience ; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands.

     

    Export in Literaturverwaltung   RIS-Format
      BibTeX-Format
    Quelle: BASE Fachausschnitt Germanistik
    Sprache: Englisch
    Medientyp: Aufsatz aus einer Zeitschrift
    Format: Online
    Übergeordneter Titel: ISSN: 1018-4813 ; EISSN: 1476-5438 ; European Journal of Human Genetics ; https://www.hal.inserm.fr/inserm-03846561 ; European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
    Schlagworte: MESH: Adolescent; MESH: Adult; MESH: Hippocampus; MESH: Humans; MESH: Intellectual Disability; MESH: Male; MESH: Mice; MESH: Mutation; MESH: Neocortex; MESH: Phenotype; MESH: Syndrome; MESH: T-Box Domain Proteins; MESH: Animals; MESH: Autistic Disorder; MESH: Child; Preschool; MESH: Cognition; MESH: Craniofacial Abnormalities; MESH: Female; [SDV]Life Sciences [q-bio]; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics