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Updated: Dec 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome]
Fang Liu1, Li Guo, Rujia Liang
1Department of Neonatology, Bethun International Peace Hospital, Shijiazhuang, Hebei 050082, China. liufanglafy@126.com.
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.
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