Publications by authors named "P Brunelle"
Article Synopsis
- Diamond-Blackfan Anemia Syndrome (DBS) is a rare condition marked by bone marrow failure and various congenital anomalies, with RPL26 emerging as a key gene associated with it.
- The study involved patients with RPL26 variants, examining blood cell development and RPL26 expression in a patient’s cells.
- Findings indicated that RPL26 is linked to multiple congenital issues, especially radial ray anomalies, and bone marrow failure is not always present in DBS, broadening the understanding of the condition’s spectrum.
Article Synopsis
- The study focuses on Holt-Oram syndrome (HOS), a condition caused by TBX5 gene variants, which lead to heart and limb abnormalities, and highlights the difficulties in predicting the effects of these genomic variants, particularly missense and splice variants.
- Functional tests on various TBX5 variants were conducted to better classify variants of uncertain significance (VUS), leading to the reclassification of 9 out of 14 as likely pathogenic and confirming their involvement in HOS.
- The findings show that bioinformatics and biological tests are essential and work together with clinical knowledge to improve genomic variant classification for rare diseases.
Recent advances in the understanding of infantile developmental epileptic encephalopathies (IDEE) have revealed the association of biallelic pathogenic variants in UGDH. In this study, we report two novel combinations identified by exome sequencing: p.(Arg135Trp) with p.
View Article and Find Full Text PDFOsteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1 and COL1A2 account for approximately 85-90% of OI cases, there are now more than twenty genes described, responsible for rare forms of OI. Treatment is based on the use of bisphosphonates and though it is well established that they increase lumbar spine (LS) bone mineral density (BMD), the clinical impact on fracture reduction is still debated.
View Article and Find Full Text PDFHeterozygous variants in the Poly(U) Binding Splicing Factor 60kDa gene () have been associated with Verheij syndrome, which has the key features of coloboma, short stature, skeletal abnormalities, developmental delay, palatal abnormalities, and congenital heart and kidney defects. Here, we report five novel patients from unrelated families with -related disorders exhibiting novel genetic and clinical findings with three truncating variants, one splice-site variant with likely reduced protein expression, and one missense variant. Protein modeling of the patient's missense variant in the PUF60 AlphaFold structure revealed a loss of polar bonds to the surrounding residues.
View Article and Find Full Text PDF