Identification of Novel NSD1 variations in four Pediatric cases with sotos Syndrome.

Autor: Ren, Zhuo, Yue, Ling, Hu, Hua-ying, Hou, Xiao-lin, Chen, Wen-qi, Tan, Ya, Dong, Zhe, Zhang, Jing
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Zdroj: BMC Medical Genomics; 4/29/2024, Vol. 17 Issue 1, p1-8, 8p
Abstrakt: Objective: Sotos syndrome (SOTOS) is an uncommon genetic condition that manifests itself with the following distinctive features: prenatal overgrowth, facial abnormalities, and intellectual disability. This disorder is often associated with haploinsufficiency of the nuclear receptor-binding SET domain protein 1 (NSD1)gene. We investigated four pediatric cases characterized by early-onset overgrowth and developmental delay. The primary objective of this study was to achieve accurate genetic diagnoses. Design&Methods: A sequential analysis approach comprising chromosomal karyotyping, whole exome sequencing, and microarray analysis was conducted. Results: All four cases exhibited variations in the NSD1 gene, with the identification of four previously unreported de novo variants, each specific to one case.Specifically, Case 1 carried the NSD1 (NM_022455): c.2686 C > T(p.Q896X) variant, Case 2 had the NSD1 (NM_022455): c.2858_2859delCT(p.S953X) variant, Case 3 displayed a chromosomal aberration, chr5: 5q35.2q35.3(176,516,604–176,639,249)×1, which encompassed the 5′-untranslated region of NSD1, and Case 4 harbored the NSD1 (NM_022455): c.6397T > G(p.C2133G) variant. Conclusion: This study not only provided precise diagnoses for these cases but also supplied significant evidence to facilitate informed consultations. Furthermore, our findings expanded the spectrum of mutations associated with SOTOS. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
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