一例SON基因杂合变异所致ZTTK综合征患儿的临床及遗传学分析

Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene

目的探讨1例足月小样儿伴有消化道出血、发育落后及血小板减少患儿的遗传学病因。方法对患儿进行临床和实验室检查,应用二代测序技术进行基因测序分析,对可疑致病基因位点进行患儿及其父母的Sanger测序验证。结果二代测序结果显示,患儿SON基因存在一个c.5751;754del变异,导致氨基酸发生移码变异(p.V1918Efs*87),患儿父母在该位点均无变异。结论SON基因的杂合变异可能是导致该例患儿ZTTK综合征的遗传学病因。上述发现丰富了SON基因的变异谱,为临床决策和遗传咨询提供了依据。

Objective To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding,developmental delay and thrombocytopenia(Zhu-Tokita-Takenouchi-Kim syndrome).Methods Clinical and laboratory examinations were carried out for the patient.Next-generation sequencing(NGS)was used to detect potential variant associated with the disease.Candidate variant was verified by Sanger sequencing of the child and her parents.Results NGS revealed that the child has carried a heterozygous c.5751_5754del variant of the SON gene,which resulted in a frameshift p.V1918Efs*87.The same variant was detected in neither parent.Conclusion The heterozygous variant of SON gene probably underlay the ZTTK syndrome in this child.Above finding has enriched the mutational spectrum of the SON gene and provides a basis for genetic counseling and clinical decision-making.