A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems

ConclusionThe findings of this study expand the existing knowledge of variants of theCHD2 gene and provide a detailed phenotype associated with this gene. These data could have implications for genetic diagnosis and counselling in similar conditions. Moreover, this information could be useful for therapeutic purposes, including the proper administration of medication to control epilepsy.

https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2305?af=R

Source: Molecular Genetics & Genomic Medicine - October 25, 2023 Category: Genetics & Stem Cells Authors: Atefeh Mir, Yongjun Song, Hane Lee, Zakiye Nadeali, Mohammad Amin Tabatabaiefar Tags: ORIGINAL ARTICLE Source Type: research