Minimal Critical Region and Genes for a Typical Presentation of Langer-Giedion Syndrome

We report two unrelated patients with 8q23q24 deletions, characterized by cytogenomic techniques, with one of them, to our knowledge, carrying the smallest deletion reported in classic LGS cases. We assessed the pathogenicity of the deletion of genes within the 8q23q24 region and reviewed other molecularly confirmed cases from the literature. Our findings suggest a 3.2-Mb critical region for a typical presentation of the syndrome, emphasizing the contribution of theTRPS1,RAD21, andEXT1 genes ’ haploinsufficiency, and facial dysmorphisms as well as bone anomalies as the most frequent features among patients with LGS. We also suggest a possible role for theCSMD3 gene, whose deletion seems to contribute to central nervous system anomalies. Since studies performing such correlation for LGS patients are limited, our data contribute to improving the ge ­notype-phenotype characterization for LGS patients.Cytogenet Genome Res

Source: Cytogenetic and Genome Research - March 15, 2022 Category: Genetics & Stem Cells Source Type: research