胶质3
移码突变
桑格测序
外显子组测序
遗传学
多指
基因
生物
DNA测序
突变
抑制因子
转录因子
作者
Xiaonan Hou,Jianjun Wang,Yi Lu,Daiyue Yu,Jiaming Yang,Nan Li,Hong Yang,Kai Wu
出处
期刊:PubMed
日期:2023-01-10
卷期号:40 (1): 92-95
标识
DOI:10.3760/cma.j.cn511374-20220224-00125
摘要
To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.
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