A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.

Abstract

OBJECTIVE\nWe report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene.\n\n\nPATIENTS AND METHODS\nA male with congenital hypopituitarism and polymalformation syndrome was clinically, biochemically and neuroradiologically characterized. Genetic analysis for congenital hypopituitarism was performed using a targeted NGS custom gene panel.\n\n\nRESULTS\nA heterozygous frameshift mutation, NM_005270.4:c.2125del, p.(Leu709Trpfs*15), was identified in GLI2 exon 12. This mutation has not been previously reported and confirms the diagnosis of Culler-Jones syndrome (MIM #615849).\n\n\nCONCLUSION\nGLI2 mutations should be suspected in the presence of congenital hypopitutarism, characteristic facial abnormalities and polydactyly.