Diagnosis and literature review of Sotos syndrome caused by a de novo variation of NSD1 gene
Objective: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 genet-ic 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 lit-erature review.Results:This female patient with 4 year old exhibited the height of 119cm(+3.8 SD),the head circ-umference 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 chromo-some 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 data-base.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 prima-rily characterized by the craniofacial deformities,the overgrowth and the developmental delay,and their genetic analy-sis focused on microdeletions.De nove variants in NSD1 gene of the patients were common,while the familial inherit-ance of the patients was rare.Conclusion:The C.4765+1 G＞C variant in NSD1 gene of the patients is likely patho-genic for their craniofacial deformities,overgrowth and developmental delay in language and movement.Trio-WES se-quencing helps to diagnose Sotos syndrome of the individuals presenting with craniofacial abnormalities,overgrowth,and cognitive impairments.
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