A rare intrauterine onset growth retardation syndrome caused by mosaic 19p13.3 microduplication: evaluation of GH/IGF-1 axis and GH therapy response


Ozer E., Karaman B., Gunes N. , Evliyaoglu O. , Tuysuz B.

TURKISH JOURNAL OF PEDIATRICS, vol.63, no.1, pp.174-180, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 63 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.24953/turkjped.2021.01.022
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.174-180

Abstract

Background. 19p13.3 microduplication syndrome is a newly defined intrauterine onset growth retardation syndrome characterized by microcephaly, moderate intellectual disability, speech delay, and mild dysmorphic features. The PIAS4 gene located in this region plays a crucial role as a transcriptional co-regulator in various cellular pathways including STAT, p53/TP53 and growth hormone (GH) signaling and mutations in this gene are thought to be responsible for clinical features.