Publications by authors named "A Kitzis"
Background: The majority of variants of unknown clinical significance (VUCS) in the CFTR gene are missense variants. While change on the CFTR protein structure or function is often suspected, impact on splicing may be neglected. Such undetected splicing default of variants may complicate the interpretation of genetic analyses and the use of an appropriate pharmacotherapy.
View Article and Find Full Text PDFThree Complex alleles associated with N1303K mutation and their molecular consequences.
Cell Mol Biol (Noisy-le-grand)
April 2022
Article Synopsis
- * This study aimed to identify complex alleles with the N1303K mutation among patients from Lebanon, Egypt, and France by using PCR amplification and DNA sequencing.
- * Results indicate that N1303K, along with associated polymorphisms, leads to abnormal CFTR mRNA splicing, affecting the protein's quality and quantity, which may influence the severity of Cystic Fibrosis symptoms.
Article Synopsis
- CHARGE syndrome is a rare genetic disorder linked to mutations in the CHD7 gene, leading to various congenital abnormalities.
- The study aimed to create a biological test for CHD7 protein to understand how specific genetic variants affect its function.
- Results showed that while the wild-type CHD7 effectively downregulated certain genes, the variants did not have the same effect, indicating they are nonfunctional and contribute to the disease.
Article Synopsis
- - CHARGE syndrome is a rare genetic disorder primarily caused by mutations in the CHD7 gene, often occurring as de novo mutations.
- - The study identifies a specific area with recurrent mutations in the CHD7 gene, highlighting a particular genomic context that makes these mutations impactful, including issues with natural acceptor sites.
- - By using computational analysis and experimental methods, the research shows that these mutations create new splice sites, suggesting that combining different diagnostic techniques could improve molecular diagnosis in patients.