High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes
Authors' conclusion
Nearly one-quarter of Indian children with islet antibody-negative T1DM had recessive mutations in the WFS1 gene. These patients did not exhibit other features of WS at the time of diagnosis. Testing for monogenic diabetes, especially WS, should be considered in Indian children with antibody-negative T1DM.
Study context
- Population
- Indian children (age 1–18 years) with recent-onset T1D; islet antibody-negative children underwent targeted next-generation sequencing for 31 monogenic diabetes genes34 sequenced
- Participants
- 169 children
- Outcome
- Pathogenic or likely pathogenic genetic variants
Methodological detailsmulticenter, All mutations confirmed by Sanger sequencing
- Multicenter
- All mutations confirmed by Sanger sequencing
Main finding
As reported in the abstract
- Negative for all islet antibodies
- Thirty-five (21%)
- Pathogenic or likely pathogenic variants
- 12 (7% of entire cohort, 34% of islet antibody-negative T1D)
- WFS1 variants (most frequent locus)
- 9 (5% of entire cohort, 26% of islet antibody-negative)
- WFS1: homozygous
- 7
- WFS1: compound heterozygous
- 1
- WFS1: heterozygous
- 1
- Heterozygous mutations in HNF4A, ABCC8 and PTF1A loci
- 3
Observational data: associations, not effects.
Further findings
Clinical presentation of Wolfram syndrome 1 (WS)
- Ketoacidosis
- 3 patients
- Severe insulin-requiring diabetes; other syndromic manifestations not detected
Original publication
High Frequency of Recessive WFS1 Mutations Among Indian Children With Islet Antibody-negative Type 1 Diabetes. J Clin Endocrinol Metab. Published 1 November 2023. doi:10.
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