Abstract
Neonatal diabetes mellitus with congenital hypothyroidism (NDH) syndrome (OMIM: 610199) caused by GLIS3 gene mutations is a multisystem disorder. To date, only 23 cases of NDH syndrome have been reported worldwide. We report a child diagnosed on day 24 of life with neonatal diabetes, congenital hypothyroidism, congenital glaucoma, and dysmorphic facial features. Genetic analysis revealed a homozygous pathogenic frameshift variant (p.Gln361Profs*193) in the GLIS3 gene, located on chromosome 9p24.2. Our report confirms that infants with neonatal diabetes and congenital hypothyroidism along with facial dysmorphism should be screened for GLIS3 mutations.
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