Human Imprinting Syndromes

Abstract

Human imprinting disorders can provide critical insights into the role of imprinted genes in human development and health, and the molecular mechanisms that regulate genomic imprinting. To illustrate these concepts we review the clinical and molecular features of several human imprinting syndromes including Beckwith–Wiedemann syndrome, Silver–Russell syndrome, Angelman syndrome, Prader–Willi syndrome, pseudohypoparathyroidism, transient neonatal diabetes, familial complete hydatidiform moles and chromosome 14q32 imprinting domain disorders.

KEYWORDS::

• Beckwith–Wiedemann syndrome
• genomic imprinting
• hydatidiform mole
• NLRP
• Prader–Willi/Angelman syndrome
• pseudohypoparathyroidism
• Silver–Russell syndrome
• transient neonatal diabetes
• uniparental disomy

Acknowledgements

We apologize to those authors whose work we were unable to cite because of limited space, and thank the referees for helpful comments.

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.