Homozygous 11p15-p14 Deletion Syndrome

Homozygous 11p15-p14 deletion syndrome was first reported in 2000 by Maria Bitner-Glindzicz et al. in members of two consanguineous families who presented with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy, and renal tubular dysfunction (Bitner-Glindzicz et al. 2000). The name of this syndrome originates from the cause of it which is deletion of 122 kilobases on chromosome 11p15-p14 (Bitner-Glindzicz et al. 2000). It is a combination of two syndromes which are congenital hyperinsulinism and Usher syndrome (Zenker et al. 2023). To our knowledge, 20 cases of Usher-CHI syndrome have been identified so far and all of them developed neonatal hypoglycemia (Zenker et al. 2023). The characteristics usually initiate in neonates (Zenker et al. 2023).