Analysis of INS gene variant in a juvenile with maturity-onset diabetes of the young type 10 / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To analyze INS gene variant in a patient with maturity-onset diabetes of the young type 10.@*METHODS@#High-throughput sequencing was used to screen for the variants. Suspected variant was verified by Sanger sequencing.@*RESULTS@#Genetic testing indicated that the patient and his mother have both carried a heterozygous c.130G>A (p.Gly44Arg) variant in exon 1 of the INS gene. Prediction of protein structure suggested the variant to be pathogenic.@*CONCLUSION@#The c.130G>A (p.Gly44Arg) variant of the INS gene probably underlies the disease in this patient.