Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes

Diabetes Res Clin Pract. 2021 May:175:108798. doi: 10.1016/j.diabres.2021.108798. Epub 2021 Apr 15.

Abstract

We report a 6-month-old boy with antibody-positive insulin-dependent diabetes mellitus. Sequencing identified compound heterozygous deletions of exon 5 and exons 36-37 in LRBA. At three years, he has yet to exhibit any other immune symptoms. Genetic testing of LRBA is warranted in patients with neonatal diabetes, even without immune dysregulation.

Keywords: Autoimmunity; Copy number variants; Monogenic; Next generation sequencing; Type 1 diabetes.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / metabolism*
  • DNA Copy Number Variations / genetics*
  • Genetic Testing / methods*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation

Substances

  • Adaptor Proteins, Signal Transducing
  • LRBA protein, human