IMAGe and Related Undergrowth Syndromes: The Complex Spectrum of Gain-of-Function CDKN1C Mutations.

Abstract

CDKN1C is a cyclin-dependent kinase Inhibitor and negative regulator of cellular proliferation. Recently, gain-of-function mutations in the PCNA domain of CDKN1C have been reported as the genetic basis of various growth-retarded syndromes including IMAGe syndrome, Russell Silver syndrome as well as a novel undergrowth syndrome that additionally exhibited early adulthood onset diabetes. This review summarizes the key clinical features and the molecular advances that have contributed to our understanding of this complex phenotypic spectrum.

• Authors: Catalina Cabrera-Salcedo, Priya Kumar, Vivian Hwa, Andrew Dauber
• Journal: Pediatric endocrinology reviews : PER (Pediatr Endocrinol Rev) Vol. 14 Issue 3 Pg. 289-297 (Mar 2017) ISSN: 1565-4753 [Print] Israel
• PMID: 28508599 (Publication Type: Journal Article, Review)
• Copyright: Copyright© of YS Medical Media ltd.

Chemical References

• CDKN1C protein, human
• Cyclin-Dependent Kinase Inhibitor p57

Topics

• Adrenal Insufficiency (classification, genetics, pathology)
• Cyclin-Dependent Kinase Inhibitor p57 (genetics)
• Fetal Growth Retardation (classification, genetics, pathology)
• Growth Disorders (genetics)
• Humans
• Male
• Mutation
• Osteochondrodysplasias (classification, genetics, pathology)
• Phenotype
• Syndrome
• Urogenital Abnormalities (classification, genetics, pathology)