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Silver Russell syndrome in a preterm girl with 8q12.1 deletion encompassing PLAG1

José Ramón Fernández-Fructuoso1, Cristina De la Torre-Sandoval2, Madeleine D Harbison3

  • 1Servicio de Pediatría, Unidad de Neonatología, Hospital General Universitario de Santa Lucía.

Clinical Dysmorphology
|September 4, 2021
PubMed

Insights

Silver Russell syndrome (SRS) is a growth disorder. A new case highlights a large deletion impacting the PLAG1 gene, confirming its role in SRS-like conditions.

Area of Science:

  • Genetics
  • Pediatrics
  • Endocrinology

Background:

  • Silver Russell syndrome (SRS) is a rare congenital imprinting disorder.
  • Key features include intrauterine and postnatal growth retardation, and feeding difficulties.
  • Genetic factors, including PLAG1 gene variants, are implicated in a subset of SRS cases.

Purpose of the Study:

  • To investigate the genetic and phenotypic characteristics of a patient with SRS-like features.
  • To explore the role of PLAG1 in the etiology of Silver Russell syndrome.

Main Methods:

  • Clinical evaluation of a 26-month-old girl presenting with SRS symptoms.
  • Molecular analysis to identify genetic variations, including chromosomal deletions.
  • Assessment of gene expression, specifically Insulin-like growth factor 2 (IGF2).

Main Results:

  • A de novo 2.1 Mb deletion encompassing the PLAG1 gene was identified in the patient.
  • The deletion was associated with clinical manifestations consistent with SRS.
  • PLAG1 haploinsufficiency is confirmed to reduce IGF2 expression, leading to SRS-like phenotypes.

Conclusions:

  • This case reinforces the critical role of PLAG1 in normal growth and development.
  • Large deletions involving PLAG1 are a significant cause of Silver Russell syndrome.
  • Further research into PLAG1-associated growth disorders is warranted.

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