|
Abstract To explore the correlation between the genotype and phenotype of patients with Sotos syndrome diagnosed by gene sequencing in China. Methods: A retrospective analysis was conducted on the clinical data and genetic results of a child with Sotos syndrome diagnosed by familial Trio-whole exome sequencing(Trio-WES). The clinical data and the genetic results of the patients who met the inclusion criteria of Sotos syndrome were obtained through literature review. Results: This female patient with 4 year old exhibited the height of 119cm(+3.8 SD), the head circumference of 52.5cm(+1.7 SD), the high anterior hairline, the depressed nasal bridge, the hypertelorism of eyes, the pointed chin, the delayed language and motor developments, and the excessive growth since childhood. The chromosome karyotype analysis of this patient revealed no abnormalities. Trio-WES sequencing identified a de novo variant in the NM_022455.5(NSD1) gene:(C.4765+1 G>C), and that was not previously documented in the human gene database. This variant of the patient led to a diagnosis of Sotos syndrome in combination with her clinical symptoms. In China, 26 patients with Sotos syndrome and NSD1 gene variants had been reported. The clinical phenotype was primarily characterized by the craniofacial deformities, the overgrowth and the developmental delay, and their genetic analysis focused on microdeletions. De nove variants in NSD1 gene of the patients were common, while the familial inheritance of the patients was rare. Conclusion: The C.4765 +1 G>C variant in NSD1 gene of the patients is likely pathogenic for their craniofacial deformities, overgrowth and developmental delay in language and movement. Trio-WES sequencing helps to diagnose Sotos syndrome of the individuals presenting with craniofacial abnormalities, overgrowth, and cognitive impairments.
|
|
|
|
|
|
