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

Author information

Affiliations

  • 1. Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain.
      Authors
    • Martín-Rivada Á 1
    • Güemes M 1
    (2 authors)
  • 2. Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
      Authors
    • Rodríguez-Contreras FJ 2
    (1 author)
  • 3. Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain; Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutriciόn (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.
      Authors
    • Muñoz-Calvo MT 3
    (1 author)
  • 4. Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain.
      Authors
    • González-Casado I 4
    (1 author)
  • 5. Pediatric Endocrinology and Dysmorphology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.
      Authors
    • Del Pozo JS 5
    (1 author)
    • Show all (7)

ORCIDs linked to this article

Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society, 18 Dec 2018, 44:17-19
https://doi.org/10.1016/j.ghir.2018.12.002 PMID: 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.

Full text links 

Read article at publisher's site: https://doi.org/10.1016/j.ghir.2018.12.002

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Funding 

Funders who supported this work.

Comunidad de Madrid (1)

FEDER

    Spanish Ministry of Health (3)