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

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

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

  • Publication Type: Article / Article
  • Volume: 63 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.24953/turkjped.2021.01.022
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.174-180
  • Keywords: 19p13.3 microduplication, intrauterine growth retardation, microcephaly, PIAS4, growth hormone, INTELLECTUAL DISABILITY, DYSMORPHIC FEATURES, PURE DUPLICATION, PIAS4
  • Open Archive Collection: AVESIS Open Access Collection
  • Istanbul University Affiliated: Yes

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.