Publications by authors named "B Dauriat"
Background: Aarskog-Scott syndrome (AAS) is a rare condition with multiple congenital anomalies, caused by hemizygote variants in the gene. Its description was based mostly on old case reports, in whom a molecular diagnosis was not always available, or on small series. The aim of this study was to better delineate the phenotype and the natural history of AAS and to provide clues for the diagnosis and the management of the patients.
View Article and Find Full Text PDFTransthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing irreversible organ damage. Transthyretin amyloidosis can present as a hereditary ATTR or acquired wild-type ATTR form. Genetic testing is critical for determining a hereditary predisposition and subsequently initiating appropriate family screening.
View Article and Find Full Text PDFArticle Synopsis
- - TOKAS (Tonne-Kalscheuer syndrome) is a rare genetic disorder linked to multiple congenital anomalies, predominantly affecting males, and only 7 prenatal cases were previously documented among 41 patients.
- - A study identified 11 new cases from 6 French families through collaboration, revealing common features like diaphragmatic hernia, sex development differences, and various malformations, along with previously unreported conditions.
- - This research marks the first comprehensive fetal cohort for TOKAS, enhancing understanding of its clinical traits and genetic variants, with a significant recurrence of a specific genetic mutation noted in many cases.
Article Synopsis
- HCN gated channels play a vital role in brain functions like learning and sensory processing, and their dysfunction is linked to brain disorders, particularly epilepsy.
- The study identifies 21 individuals with genetic variations associated with developmental delays, intellectual disabilities, and epilepsy, expanding our understanding of related disorders.
- Functional tests on specific variants revealed that some mutations significantly increased HCN2 channel conductance, while others caused loss of function and impaired channel trafficking, suggesting diverse impacts of these variants on brain function.