24 research outputs found
Measurements of identified particle anisotropic flow in Cu plus Au and U plus U collisions by PHENIX experiment
Runt-Related Transcription Factor 3: Single Nucleotide Polymorphism rs760805, Gene Expression, and Methylation Status in Helicobacter pylori-Infected Patients for Determination of Gastric Cancer Risk
Interplay between α2-chimaerin and Rac1 activity determines dynamic maintenance of long-term memory
Holt-oram syndrome: clinical and molecular description of 78 patients with tbx5 variants
International audienceHolt-Oram syndrome (HOS) is an autosomal dominant condition characterised by the association of congenital heart defect (CHD), with or without rhythm disturbances and radial defects, due to TBX5 variants. The diagnosis is challenged by the variability of expression and the large phenotypic overlap with other conditions, like Okihiro syndrome, TAR syndrome or Fanconi disease. We retrospectively reviewed 212 patients referred for suspicion of HOS between 2002 and 2014, who underwent TBX5 screening. A TBX5 variant has been identified in 78 patients, representing the largest molecular series ever described. In the cohort, 61 met the previously described diagnostic criteria and 17 have been considered with an uncertain HOS diagnosis. A CHD was present in 91% of the patients with a TBX5 variant, atrial septal defects being the most common (61.5%). The genotype-phenotype study highlights the importance of some critical features in HOS: the septal characteristic of the CHD, the bilateral and asymmetric characteristics of the radial defect and the presence of shoulder or elbow mobility defect. Besides, 21 patients presented with an overlapping condition. Among them, 13 had a typical HOS presentation. We discuss the strategies that could be adopted to improve the molecular delineation of the remaining typical patients