A novel GLI2 mutation responsible for congenital hypopituitarism and polymalformation syndrome

Growth Horm IGF Res. 2019 Feb:44:17-19. doi: 10.1016/j.ghir.2018.12.002. Epub 2018 Dec 18.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Cleft Palate / genetics*
  • Cleft Palate / pathology
  • Frameshift Mutation*
  • Humans
  • Hypopituitarism / congenital*
  • Hypopituitarism / genetics*
  • Hypopituitarism / pathology
  • Infant, Newborn
  • Male
  • Nuclear Proteins / genetics*
  • Phenotype
  • Prognosis
  • Syndrome
  • Zinc Finger Protein Gli2 / genetics*

Substances

  • GLI2 protein, human
  • Nuclear Proteins
  • Zinc Finger Protein Gli2