Publications by authors named "M TILL"
Article Synopsis
- Tatton-Brown-Rahman syndrome (TBRS) is a genetic disorder characterized by overgrowth, intellectual disability, and distinct facial features, resulting from mutations in a gene that regulates DNA methylation.* -
- A study of 24 French patients identified 17 new genetic variants, confirming that 100% showed intellectual disability, 96% had distinctive facial traits, and 87% exhibited overgrowth, alongside novel symptoms like hypertrichosis.* -
- The findings enhance the understanding of TBRS's clinical presentation, aiding in diagnosis and patient care by clarifying its genetic and phenotypic diversity.*
Article Synopsis
- Xq28 int22h-1/int22h-2 duplication results from recombination between specific genetic repeats and is linked to a form of intellectual disability along with recurrent infections and atopic diseases.
- In a study involving 15 families, many carriers exhibited mild or no symptoms, suggesting that the condition can manifest variably.
- The findings point towards potential incomplete penetrance, meaning not all carriers show obvious signs of the condition, indicating a need for further research to understand the genetic implications better.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Guillaume Jedraszak Florence Jobic Aline Receveur Frédéric Bilan Brigitte Gilbert-Dussardier Marianne Till
Am J Med Genet A
April 2024
Article Synopsis
- - Cat Eye Syndrome (CES) is a rare genetic disorder linked to a marker chromosome from chromosome 22, leading to diverse symptoms including iris coloboma, anal atresia, and preauricular tags, but these are present in less than half of the cases.
- - An international study of 43 CES patients found that only 16% displayed all three classic symptoms, while 9% showed none; additional issues such as cardiac anomalies (51%) and intellectual disabilities (47%) were also common.
- - The study highlights the significance of supernumerary marker chromosomes (sSMC), found in 91% of cases, with many parents showing mild traits, emphasizing the need for genetic counseling regarding recurrence risks.
Article Synopsis
- This study focuses on the gene RAB11B, which has been linked to severe intellectual disability, aiming to validate its role in neurodevelopmental disorders.* -
- Researchers identified seven new individuals with genetic variants in RAB11B, analyzing their clinical features and using molecular modeling to understand the structural effects of these variants.* -
- Findings indicate a strong correlation between the specific genetic variants and the severity of symptoms, with certain mutations linked to more severe disabilities while others lead to milder issues like epilepsy.*