Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome
10.3760/cma.j.issn.1003-9406.2020.02.010
- VernacularTitle:一例Donohue综合征新生儿的基因变异分析
- Author:
Fang LIU
1
;
Li GUO
;
Rujia LIANG
;
Baoquan JIAO
Author Information
1. 中国人民解放军白求恩国际和平医院新生儿科
- Keywords:
Donohue syndrome;
Insulin resistance;
Insulin receptor gene;
Next generation sequencing;
Variant
- From:
Chinese Journal of Medical Genetics
2020;37(2):142-146
- CountryChina
- Language:Chinese
-
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.
