Cytogenetic and Genome Research
Novel Insights from Clinical Practice
Favilla B.P.a· Burssed B.a· Yamashiro Coelho É.M.a· Perez A.B.A.a· de Faria Soares M.F.b· Meloni V.A.a· Bellucco F.T.a· Melaragno M.I.aaDepartment of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil
bDepartment of Imaging Diagnosis, Universidade Federal de São Paulo, São Paulo, Brazil
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Article / Publication DetailsFirst-Page Preview
Received: September 17, 2021
Accepted: January 17, 2022
Published online: March 15, 2022
Number of Print Pages: 9
Number of Figures: 2
Number of Tables: 1
ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)
For additional information: https://www.karger.com/CGR
AbstractLanger-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 genotype-phenotype characterization for LGS patients.
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Received: September 17, 2021
Accepted: January 17, 2022
Published online: March 15, 2022
Number of Print Pages: 9
Number of Figures: 2
Number of Tables: 1
ISSN: 1424-8581 (Print)
eISSN: 1424-859X (Online)
For additional information: https://www.karger.com/CGR
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