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IGF2 Mutations.

Yohei Masunaga1, Takanobu Inoue2, Kaori Yamoto1

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Mutations in the Insulin-like Growth Factor 2 (IGF2) gene are a rare cause of Silver-Russell syndrome (SRS). IGF2 mutations present distinct clinical features compared to H19/IGF2:IG-DMR epimutations in SRS patients.

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Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Insulin-like Growth Factor 2 (IGF2) is a crucial growth-promoting gene, primarily expressed from the paternally inherited allele.
  • Silver-Russell syndrome (SRS) is a growth disorder characterized by intrauterine growth restriction and postnatal growth failure.
  • Epigenetic alterations affecting the H19/IGF2:IG-DMR locus are known causes of SRS.

Observation:

  • Five novel cases with IGF2 mutations were identified, including splice site and missense mutations affecting critical cysteine residues.
  • All identified mutations were located on the paternally inherited allele, with one case exhibiting mosaicism.
  • Clinical assessment of 14 patients with IGF2 mutations revealed SRS phenotypes, with specific features differentiating them from patients with H19/IGF2:IG-DMR epimutations.

Findings:

  • IGF2 mutations are a rare but significant genetic cause of SRS.
  • Patients with IGF2 mutations showed a lower incidence of hemihypoplasia but a higher frequency of feeding difficulties, low body mass index, relative macrocephaly, limb malformations, cardiovascular anomalies, and developmental delay compared to those with H19/IGF2:IG-DMR epimutations.
  • Serum IGF-II levels were consistently low in patients with IGF2 mutations.

Implications:

  • IGF2 mutations should be considered in the genetic diagnosis of SRS, particularly in cases with specific phenotypic presentations.
  • Understanding the distinct clinical features associated with IGF2 mutations versus H19/IGF2:IG-DMR epimutations can aid in diagnosis and management.
  • Differential IGF2 expression patterns in target tissues may underlie the observed phenotypic variations between these genetic causes of SRS.