ESPE Abstracts

Background: GLI2 is a transcription factor downstream in SH signaling, playing an early role in ventral forebrain and pituitary development. GLI2 mutations have been reported in patients with holoprosencephaly and/or congenital hypopituitarism, showing significant phenotypic variability. Here, we present a case involving a novel heterozygous missense mutation in GLI2.Case Presentation: An Indian girl, adopted by an Itali...

Background: Silver Russell Syndrome (SRS) is characterized by pre- and postnatal growth failure, relative macrocephaly at birth, prominent forehead, feeding difficulties and body asymmetry. The diagnosis is clinical, the genetic mechanisms involved are different, in 50% of cases loss of methylation (LOM) at the paternal H19/IGF2:IG-DMR (chr11p15.5), in 10% of cases maternal uniparental disomy of chromosome 7 (UPD(7)mat), cases of maternal uniparental ...

Background: Congenital hypopituitarism (CH) genetics is highly heterogeneous. The massive use of NGS identified at least 21 desease causing genes. Not fully understood inheritance mechanism, incomplete penetrance and variable expressivity explain the complexity of phenotype-genotype correlations. To further complicate the scenario, the co-occurence of more than one desease-causing genes variants can geopardize the phenotype. Herein, we report the heterogeneous...