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Syndromic Disorders Caused by Disturbed Human Imprinting

Diana Carli1, Evelise Riberi1, Giovanni Battista Ferrero1

  • 1University of Torino, Department of Pediatric and Public Health Sciences, Torino, Italy

Journal of Clinical Research in Pediatric Endocrinology
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Genomic imprinting disorders are congenital diseases from gene expression errors, impacting growth and development. They are underdiagnosed due to varied symptoms and diagnostic challenges.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Endocrinology

Background:

  • Imprinting disorders are congenital diseases arising from dysregulated genomic imprinting.
  • These disorders affect prenatal/postnatal growth, neurodevelopment, metabolism, and cancer predisposition.
  • Aberrant gene expression occurs via epigenetic or genetic mechanisms, with phenotypes dependent on the parental allele involved.

Purpose of the Study:

  • To review known human imprinting disorders.
  • To highlight key endocrinological aspects relevant to pediatric care.
  • To underscore the challenges in diagnosing these conditions.

Main Methods:

  • Literature review of imprinting disorders.
  • Focus on genetic and epigenetic mechanisms.
  • Emphasis on clinical presentation and diagnosis.

Main Results:

  • Imprinting disorders exhibit diverse phenotypes influenced by maternal or paternal chromosome involvement.
  • Underdiagnosis is prevalent due to broad clinical signs, overlapping presentations, and mild/mitigated phenotypes.
  • Limited availability of diagnostic molecular techniques contributes to underdiagnosis.

Conclusions:

  • Imprinting disorders represent a significant group of congenital diseases with complex genetic and epigenetic underpinnings.
  • Improved diagnostic approaches and awareness are crucial for timely identification and management.
  • Endocrinological aspects are particularly important in the pediatric context of these disorders.