Analysis of pathogenic gene variant in a patient with neonatal Donohue syndrome / 中华医学遗传学杂志

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.