| 一例Donohue综合征新生儿的基因变异分析 |
| |
| 引用本文： | 刘芳,郭莉,梁茹佳,焦保权.一例Donohue综合征新生儿的基因变异分析[J].中华医学遗传学杂志,2020(2):142-146. |
| |
| 作者姓名： | 刘芳 郭莉 梁茹佳 焦保权 |
| |
| 作者单位： | 中国人民解放军白求恩国际和平医院新生儿科 |
| |
| 基金项目： | 河北省重点研发计划项目(182777128D)。 |
| |
| 摘 要： | 目的从分子水平明确1例疑似为Donohue综合征的新生儿的诊断。方法对患儿进行全外显子组测序(whole exome sequencing,WES),之后用Sanger测序和实时定量PCR对候选变异进行验证。结果WES检出患儿携带INSR基因的两处杂合变异,即c・3258+4(IVS17)A>G和第2外显子缺失,其中前者为新发现的变异。家系分析显示上述变异分别遗传自患儿的母亲和父亲,并经Sanger测序和实时定量PCR证实。结论INSR基因c.3258+4(IVS17)A>G和第2外显子杂合缺失所构成的复合杂合变异可能是导致患儿发病的原因。
|
| 关 键 词： | Donohue综合征 胰岛素抵抗 胰岛素受体基因 高通量测序 变异 |
Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome |
| |
| Liu Fang,Guo Li,Liang Rujia,Jiao Baoquan.Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome[J].Chinese Journal of Medical Genetics,2020(2):142-146. |
| |
| Authors: | Liu Fang Guo Li Liang Rujia Jiao Baoquan |
| |
| Institution: | (Department of Neonatology,Bethun International Peace Hospital,Shijiazhuang,Hebei 050082,China) |
| |
| Abstract: | Objective To explore the genetic basis for a newborn infant suspected with Donohue syndrome.Methods Whole exome sequencing(WES)was used to screen potential variants in the child.Suspected variants were validated through Sanger sequencing and real-time PCR.Results The child was found to carry two heterozygous variants in the INSR gene,including c.3258+4(IVS17)A>G and deletion of exon 2,which were respectively inherited from her mother and father.Conclusion The compound heterozygous variants of the INSR gene probably underlie the disease in this patient. |
| |
| Keywords: | Donohue syndrome Insulin resistance Insulin receptor gene Next generation sequencing Variant |
| 本文献已被 维普 等数据库收录！ |
