Xin Hongmei, Zhao Jianshe, Lyu Yuqiang, Yang Yanan, Li Zilong, Gai Zhongtao, Liu Yi
Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022 China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Mar 10;39(3):316-320. doi: 10.3760/cma.j.cn511374-20210315-00225.
To explore the genetic etiology of a small-for-date infant with gastrointestinal bleeding, developmental delay and thrombocytopenia (Zhu-Tokita-Takenouchi-Kim syndrome).
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.
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.
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.
探讨一名足月小样儿合并胃肠道出血、发育迟缓及血小板减少症（朱-户田-竹野内-金综合征）的遗传病因。
对该患者进行临床和实验室检查。采用二代测序（NGS）检测与该疾病相关的潜在变异。通过对患儿及其父母进行桑格测序验证候选变异。
NGS显示该患儿携带SON基因杂合的c.5751_5754del变异，导致移码突变p.V1918Efs*87。其父母均未检测到相同变异。
SON基因的杂合变异可能是该患儿患ZTTK综合征的病因。上述发现丰富了SON基因的突变谱，为遗传咨询和临床决策提供了依据。
