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  • Title: A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome.
    Author: Martín-Rivada Á, Rodríguez-Contreras FJ, Muñoz-Calvo MT, Güemes M, González-Casado I, Del Pozo JS, Campos-Barros Á, Argente J.
    Journal: Growth Horm IGF Res; 2019 Feb; 44():17-19. PubMed ID: 30583238.
    Abstract:
    OBJECTIVE: We report a novel GLI2 frameshift mutation and describe the phenotypic spectrum of mutations within this gene. PATIENTS AND METHODS: A 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. RESULTS: A 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). CONCLUSION: GLI2 mutations should be suspected in the presence of congenital hypopitutarism, characteristic facial abnormalities and polydactyly.
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