Publications by authors named "G le Guyader"
Article Synopsis
- KBG syndrome is an autosomal dominant genetic disorder characterized by neurodevelopmental issues, intellectual disability, behavioral problems, epilepsy, and distinct physical features.
- This study aimed to analyze the diagnostic pathway for individuals with KBG syndrome, focusing on the healthcare professionals involved and the reasons for referrals.
- Results indicated that pediatricians were the primary referrers for genetic consultation, mainly due to concerns about learning delays or intellectual disabilities in children.
FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Am J Med Genet B Neuropsychiatr Genet
September 2024
Since 2008, FOXG1 haploinsufficiency has been linked to a severe neurodevelopmental phenotype resembling Rett syndrome but with earlier onset. Most patients are unable to sit, walk, or speak. For years, FOXG1 sequencing was only prescribed in such severe cases, limiting insight into the full clinical spectrum associated with this gene.
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- The study investigates the concept of incomplete penetrance in neurodevelopmental disorders, where some individuals carry pathogenic genetic variants but remain asymptomatic.
- Between 2020 and 2022, researchers collaborated with a French network to analyze families where affected individuals had inherited these variants from symptom-free parents, finding 12 cases with significant genetic findings.
- The results suggest that incomplete penetrance may be more common than previously acknowledged, highlighting its importance for genetic interpretation, counseling, and future research into its underlying mechanisms.
Article Synopsis
- Duplications of the 3q29 chromosomal region are rare genetic variations linked to diverse neurodevelopmental disorders, often causing learning disabilities and neuropsychiatric issues.
- A study involving 31 families revealed different sizes of 3q29 duplications: 14 recurrent, 8 overlapping, and 9 smaller ones, with some patients showing additional genetic factors influencing their conditions.
- Most patients exhibited mild neurodevelopmental disorders, with many duplications being inherited and associated with low rates of intellectual disabilities, suggesting that severe cases might require more detailed genetic examination.