ESPE Abstracts (2018) 89 P-P3-187

Mutations in Indian children with Neonatal Diabetes

Smita Ramachandran, Aashish Sethi & Inderpal Kochar


Indraprastha Apollo Hospital, Delhi, India


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).

Table 1 Neonatal Diabetes
S. noGeneLocationMutationMutation DNA levelZygositySexNo.Age at presentationDiagnosis
1FOXP3Exon 10missensec.1040G>AHemizygousM14 weeksIPEX syndrome
2KCJN11Exon 1missensec.685G>AHeterozygousM18 weeksTransient ND
3HNF1BNovelmissensep.S19CHeterozygousM124 weeksND
4No mutation detectedM126 weeksND
5EIF2AK3Exon 5,13frameshiftc.287G>A,/ c.2511_2514del HeterozygousF117 weeksWolcott Rallison syndrome
6INSExon 3missensec.287G>AHeterozygousF122 weeksND
7No mutaion detectedF116 weeksND
8No mutaion detectedM28 weeksND
9No mutaion detectedM24 weeksND
10No mutaion detectedM20 weeksND

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.

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