| Full text | |
| Author(s): |
Favilla, Bianca Pereira
;
Burssed, Bruna
;
Yamashiro Coelho, Erika Mitie
;
Perez, Ana Beatriz Alvarez
;
de Faria Soares, Maria de Fatima
;
Meloni, Vera Ayres
;
Bellucco, Fernanda Teixeira
;
Melaragno, Maria Isabel
Total Authors: 8
|
| Document type: | Journal article |
| Source: | Cytogenetic and Genome Research; v. N/A, p. 9-pg., 2022-03-15. |
| Abstract | |
Langer-Giedion syndrome (LGS) is caused by a contiguous deletion at 8q23q24, characterized by exostoses, facial, ectodermal, and skeletal anomalies, and, occasionally, intellectual disability. LGS patients have been diagnosed clinically or by routine cytogenetic techniques, hampering the definition of an accurate genotype-phenotype correlation for the 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 the TRPS1, RAD21, and EXT1 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 the CSMD3 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. (AU) | |
| FAPESP's process: | 19/21644-0 - Impact of genetic variants on genomic stability and their effects on the phenotype |
| Grantee: | Maria Isabel de Souza Aranha Melaragno |
| Support Opportunities: | Research Projects - Thematic Grants |