期刊
CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY
卷 21, 期 1, 页码 30-38出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/MED.0000000000000037
关键词
11p15-related syndromes; Beckwith-Wiedemann syndrome; imprinting defects related metabolic disorders; multilocus imprinting disorders; Russell-Silver Syndrome
资金
- INSERM
- UPMC-Paris6
- ANR EPIFEGRO
- Pfizer
- Agence de Biomedecine
- People Programme (Marie Curie Actions) of the European Union's Seventh Framework Programme under REA [290123]
- Novonordisk
- INSERM-ANR EPIFEGRO
Purpose of reviewThe imprinted human 11p15.5 region encompasses two imprinted domains important for the control of fetal growth: the H19/IGF2 domain in the telomeric region and the KCNQ1OT1/CDKN1C domain in the centromeric region. These two domains are differentially methylated and each is regulated by its own imprinting control region (ICR): ICR1 in the telomeric region and ICR2 in the centromeric region. Aberrant methylation of the 11p15.5 imprinted region, through genetic or epigenetic mechanisms, leads to two clinical syndromes, with opposite growth phenotypes: Russell-Silver Syndrome (RSS; with severe fetal and postnatal growth retardation) and Beckwith-Wiedemann Syndrome (BWS; an overgrowth syndrome).Recent findingsIn this review, we discuss the recently identified molecular abnormalities at 11p15.5 involved in RSS and BWS, which have led to the identification of cis-acting elements and trans-acting regulatory factors involved in the regulation of imprinting in this region. We also discuss the multilocus imprinting disorders identified in various human syndromes, their clinical outcomes and their impact on commonly identified metabolism disorders.SummaryThese new findings and progress in this field will have direct consequence for diagnostic and predictive tools, risk assessment and genetic counseling for these syndromes.
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