ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 16 Issue: 2 Year: 2024
Forms

Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2020; 12(3): 319-328 | DOI: 10.4274/jcrpe.galenos.2019.2019.0142

Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene

Meliha Demiral1, Hüseyin Demirbilek2, Edip Unal1, Ceren Damla Durmaz3, Serdar Ceylaner4, Mehmet Nuri Özbek1
1Gazi Yaşargil Training and Research Hospital, Clinics of Paediatric Endocrinology, Diyarbakır, Turkey
2Hacettepe University Faculty of Medicine, Department of Paediatric Endocrinology, Ankara, Turkey
3Gazi Yaşargil Training and Research Hospital, Clinic of Medical Genetics, Diyarbakır, Turkey
4Intergen Genetic Diagnosis Center, Clinic of Medical Genetics, Ankara, Turkey

A novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in the GLI2 gene is reported. There was an extremely distinct phenotypical expression in two siblings and their father. The index case was a boy who developed cholestasis and hypoglycaemia in the neonatal period. He had bilateral postaxial polydactyly, mid-facial hypoplasia, high palatal arch, micropenis, and bilateral cryptorchidism. Laboratory examination revealed a diagnosis of multiple pituitary hormone deficiency. There was severe anterior pituitary hypoplasia, absent pituitary stalk and ectopic posterior pituitary on magnetic resonance imaging which suggested pituitary stalk interruption syndrome with no other midline structural abnormality. Molecular genetic analysis revealed a novel heterozygous splicing IVS11-2A>C(c.1957-2A>C) mutation detected in the GLI2 gene. His father and a six-year-old brother with the identical mutation also had unilateral postaxial polydactyly and mid-facial hypoplasia although there was no pituitary hormone deficiency. This novel heterozygous GLI2 mutation detected appears to present with an extremely variable clinical phenotype, even in related individuals with an identical mutation, suggesting incomplete penetrance of this GLI2 mutation.

Keywords: Growth hormone deficiency, polydactyly, GLI2 mutations, multiple pituitary hormone deficiency

Meliha Demiral, Hüseyin Demirbilek, Edip Unal, Ceren Damla Durmaz, Serdar Ceylaner, Mehmet Nuri Özbek. Ectopic Posterior Pituitary, Polydactyly, Midfacial Hypoplasia and Multiple Pituitary Hormone Deficiency due to a Novel Heterozygous IVS11-2A>C(c.1957-2A>C) Mutation in the GLI2 Gene. J Clin Res Pediatr Endocrinol. 2020; 12(3): 319-328
Manuscript Language: English
LookUs & Online Makale