Lyu Yuqiang, Zhao Dongmei, Zhang Kaihui, Gao Min, Ma Jian, Wang Dong, Gai Zhongtao, Liu Yi
Jinan Pediatric Research Institute, Qilu Children's Hospital of Shandong University, Jinan, Shandong 250022, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Apr 10;37(4):452-454. doi: 10.3760/cma.j.issn.1003-9406.2020.04.022.
To explore the clinical and genetic features of a patient with mental retardation.
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.
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.
The nonsense c.4090G>T (p.Gly1364X) variant probably accounts for the disease in this patient.
探讨一名智力发育迟缓患者的临床和遗传特征。
对该患儿进行了G显带染色体核型分析和高通量测序。通过Sanger测序和生物信息学分析在其家族中验证了疑似变异。
发现该患者携带ASXL3基因的一个新生杂合c.4090G>T（p.Gly1364X）变异，已知该变异易导致班布里奇-罗佩斯综合征。
无义c.4090G>T（p.Gly1364X）变异可能是该患者发病的原因。
