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

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.

Source: Diabetes Research and Clinical Practice - April 9, 2021 Category: Endocrinology Authors: May Sanyoura, Erika L. Lundgrin, Hari Subramanian, Min Yu, Priscilla Sodadasi, Siri Atma W. Greeley, Sarah MacLeish, Daniela del Gaudio Source Type: research