一例ASXL3基因变异伴孤独症特征的Bainbridge-Ropers综合征患儿的临床及遗传学分析

A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis

目的分析1例表现为重度精神发育迟滞、语言运动发育迟缓伴孤独症特征患儿的临床表型及遗传学特点。方法对患儿进行高通量捕获测序分析,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基因存在第11外显子c.1421_1422insTGAATTTTCTGAGGAGG-CTGAAAGT(p.Leu483*)杂合变异,其父母均未携带相同变异,提示为新发变异。结论ASXL3基因第11外显子c.1421_1422insTGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*)变异可能是该例Bainbridge-Ropers综合征患儿的遗传学病因,新变异的检出丰富了NIPBL基因变异谱。

Objective To retrospectively analyze the clinical phenotype and genetic characteristics of a child with severe mental retardation,language and motor development delays and autism.Methods High-throughput sequencing was carried out for the patient.Candidate variant was verified by Sanger sequencing and bioinformatics analysis.Results The child was found to harbor a heterozygous variant of exon 11:c.1421_1422insTGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*)of the ASXL3 gene.The same variant was found in neither of her parents,suggesting that it has a de novo origin.Conclusion The exon 11:c.1421_1422ins TGAATTTTCTGAGGAGGCTGAAAGT(p.Leu483*)variant of the ASXL3 gene probably underlay the pathogenesis of Bainbridge-Ropers syndrome in this patient.Above finding has enriched the spectrum of ASXL3 gene variants.