Liu Jiao, Chen Xueping, Shang Huifang
Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Feb 10;38(2):131-133. doi: 10.3760/cma.j.cn511374-20200211-00075.
To explore the genetic basis for a patient with intellectual disability.
Whole exome sequencing and Sanger sequencing were carried out for the patient. The result was verified in her family.
DNA sequencing revealed that the patient has carried a heterozygous nonsense c.40C>T (p.Arg14X) variant of the TRIP12 gene, which was de novo in origin. The variant was unrecorded in the Human Gene Mutation Database. Based on the American College of Medical Genetics and Genomics standards and guidelines, the variant was predicted to be pathogenic (PVS1+ PS2+ PP3).
The patient was diagnosed with autosomal dominant intellectual disability due to heterozygous c.40C>T variant of the TRIP12 gene.
探究一名智力残疾患者的遗传基础。
对该患者进行全外显子组测序和桑格测序，并在其家族中进行结果验证。
DNA测序显示该患者携带TRIP12基因杂合无义c.40C>T（p.Arg14X）变异，此变异为新发。该变异未记录于人类基因突变数据库。根据美国医学遗传学与基因组学学会的标准和指南，预测该变异具有致病性（PVS1+PS2+PP3）。
该患者因TRIP12基因杂合c.40C>T变异被诊断为常染色体显性智力残疾。
