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

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

Author information

1
Hospital Infantil Universitario Niño Jesús, Departments of Pediatrics & Pediatric Endocrinology, Research Institute "La Princesa", Madrid, Spain.
2
Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.
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.
4
Department of Pediatric Endocrinology, Hospital Universitario La Paz, Madrid, Spain.
5
Pediatric Endocrinology and Dysmorphology Unit, Hospital Universitario 12 de Octubre, Madrid, Spain.
6
Institute of Medical & Molecular Genetics (INGEMM), IdiPAZ, Hospital Universitario La Paz, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
7
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; Universidad Autónoma de Madrid, Department of Pediatrics, Madrid, Spain; IMDEA, Food Institute, CEIUAM+CSI, Crta. de Cantoblanco, 8, 28049 Cantoblanco, Madrid, Spain. Electronic address: jesus.argente@uam.es.

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.

PMID:
30583238
DOI:
10.1016/j.ghir.2018.12.002
[Indexed for MEDLINE]

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