Publications by authors named "A Faudet"
Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.
Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).
View Article and Find Full Text PDFArticle Synopsis
- The study investigates anomalies of the corpus callosum (ACC), a common brain malformation, highlighting that the genetic causes of ACC without intellectual disability (ID) are not well understood.
- Researchers identified a new dominant gene associated with ACC, reporting on nine individuals with a specific genetic variant linked to both familial inheritance and normal cognitive function.
- Findings indicate that this gene may lead to ACC while maintaining normal intellectual abilities, suggesting a broader range of physical malformations associated with it beyond just eye conditions.
Patients with rare or ultra-rare genetic diseases, which affect 350 million people worldwide, may experience a diagnostic odyssey. High-throughput sequencing leads to an etiological diagnosis in up to 50% of individuals with heterogeneous neurodevelopmental or malformation disorders. There is a growing interest in additional omics technologies in translational research settings to examine the remaining unsolved cases.
View Article and Find Full Text PDFArticle Synopsis
- Inverted duplication deletion 8p (invdupdel(8p)) is a rare genetic condition linked to developmental delays and intellectual disabilities, often presenting with brain abnormalities.
- A study analyzed 36 new cases, revealing that 97% of patients experienced developmental issues, with a significant number also suffering from seizures.
- By comparing this data with 99 previously reported cases, researchers identified a specific 5.1 Mb region in chromosome 8 associated with abnormalities of the corpus callosum, offering insights into potential genetic factors involved.