11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

doi:10.1210/jc.2007-0354

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Article

11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: clinical scoring system and epigenetic-phenotypic correlations.

The Journal of clinical endocrinology and metabolism - 1 Aug 2007

Netchine Irène, Rossignol Sylvie, Dufourg Marie-Noëlle, Azzi Salah, Rousseau Alexandra, Perin Laurence, Houang Muriel, Steunou Virginie, Esteva Blandine, Thibaud Nathalie, Demay Marie-Charles Raux, Danton Fabienne, Petriczko Elzbieta, Bertrand Anne-Marie, Heinrichs Claudine, Carel Jean-Claude, Loeuille Guy-André, Pinto Graziella, Jacquemont Marie-Line, Gicquel Christine, Cabrol Sylvie, Le Bouc Yves

Abstract excerpt

CONTEXT: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry, spares cranial growth. Maternal uniparental disomy for chromosome 7 (mUPD7) is found in 5-10% of cases. We identified loss of methylation (LOM) of 11p15 Imprinting Center Region 1 (ICR1) domain (including IGF-II) as a mechanism leading to RSS. OBJECTIVE: The aim...

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PMID: 17504900
DOI: 10.1210/jc.2007-0354

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