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 GLI2 Gene

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 GLI2 Gene J Clin Res Pediatr Endocrinol. 2019 Nov 29;: Authors: Demiral M, Demirbilek H, Unal E, Durmaz CD, Ceylaner S, Ozbek MN Abstract We, report a novel heterozygous IVS11-2A>C(c.1957-2A>C) mutation in GLI2 gene with an extremely distinct phenotypical expression in two siblings and their father from an unrelated family. The index case was a boy who developed cholestasis and hypoglycaemia at the neonatal period. He had postaxial polydactyly, mid-facial hypoplasia, high palatal arch, micropenis, and bilateral cryptorchidism. Laboratory examination revealed a diagnosis of multiple pituitary hormone deficiency. There were severe anterior pituitary hypoplasia, absent pituitary stalk and ectopic posterior pituitary on pituitary MR imaging which suggested pituitary stalk interruption syndrome (PSIS) with no other midline structural abnormality. In molecular genetic analysis, a novel heterozygous splicing IVS11-2A>C (c.1957-2A>C) mutation detected in GLI2 gene. His father and a 6-year-old brother with the identical mutation also had unilateral postaxial polydactyly and mid-facial hypoplasia whilst no pituitary hormone deficiency. Present novel heterozygous mutation detected in the GLI2 gene suggested an extremely variable clinical phenotype in individua...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research