高通量测序确诊一例ASXL3基因变异所致的Bainbridge-Ropers综合征

Diagnosis of Bainbridge-Ropers syndrome due to de novo ASXL3 variant by high throughput sequencing

目的对1例表现为精神发育迟滞、语言运动发育迟缓的患儿进行临床及遗传学分析。方法对患儿进行常规染色体G显带核型以及高通量测序分析,对疑似致病变异进行Sanger测序验证和生物信息学分析。结果患儿ASXL3基因存在c.4090G>T(p.Gly1364X)杂合变异,其父母均未携带相同变异,为新生变异。结论ASXL3基因c.4090G>T(p.Gly1364X)变异可能是患儿的遗传学病因。

Objective To explore the clinical and genetic features of a patient with mental retardation.Methods G-Banding chromosomal karyotyping and high-throughput sequencing was carried out for the child.Suspected variant was validated in his family by Sanger sequencing and bioinformatic analysis.Results The patient was found to carry a de novo heterozygous c.4090G>T(p.Gly1364X)variant of the ASXL3 gene,which was known to predispose to Bainbridge-Ropers syndrome.Conclusion The nonsense c.4090G>T(p.Gly1364X)variant probably accounts for the disease in this patient.