ESPE2018 Poster Presentations Fetal, Neonatal Endocrinology and Metabolism P3 (22 abstracts)
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).
| 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 |
| 3 | HNF1B | Novel | missense | p.S19C | Heterozygous | M | 1 | 24 weeks | 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.
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