Objective: To evaluate the genetic mutations prevalent in Indian children with Neonatal diabetes.
Methods: All infants, less than 6 months of age with hyperglycemia requiring insulin were included in the study and their genetic testing were done.
Results: Ten infants with ND were included; there were three females and seven males. The age of presentation ranged from 4 weeks to 28 weeks of age. of all the children tested 5 children were detected with mutations FOXP3, KCJN11, HNF1B, EIF2AK3, INS (Table 1).
|S. no||Gene||Location||Mutation||Mutation DNA level||Zygosity||Sex||No.||Age at presentation||Diagnosis|
|1||FOXP3||Exon 10||missense||c.1040G>A||Hemizygous||M||1||4 weeks||IPEX syndrome|
|2||KCJN11||Exon 1||missense||c.685G>A||Heterozygous||M||1||8 weeks||Transient ND|
|4||No mutation detected||||||||||M||1||26 weeks||ND|
|5||EIF2AK3||Exon 5,13||frameshift||c.287G>A,/ c.2511_2514del||Heterozygous||F||1||17 weeks||Wolcott Rallison syndrome|
|6||INS||Exon 3||missense||c.287G>A||Heterozygous||F||1||22 weeks||ND|
|7||No mutaion detected||||||||||F||1||16 weeks||ND|
|8||No mutaion detected||||||||||M||28 weeks||ND|
|9||No mutaion detected||||||||||M||24 weeks||ND|
|10||No mutaion detected||||||||||M||20 weeks||ND|
Conclusion: We report 5 mutations out of 10 children diagnosed with neonatal diabetes, out of which one was a novel mutation, one IPEX syndrome, one Wolcott Rallison syndrome.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology