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Deprecated: Implicit conversion from float 213.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Epigenomics 2016 ; 8 (4): 563-80 Nephropedia Template TP
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New developments in Silver?Russell syndrome and implications for clinical practice #MMPMID27066913
Ishida M
Epigenomics 2016[Apr]; 8 (4): 563-80 PMID27066913show ga
Silver?Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry and characteristic facial features. It is one of the imprinting disorders, which results as a consequence of aberrant imprinted gene expressions. Currently, maternal uniparental disomy of chromosome 7 accounts for approximately 10% of Silver?Russell syndrome cases, while ?50% of patients have hypomethylation at imprinting control region 1 at chromosome 11p15.5 locus, leaving ?40% of cases with unknown etiologies. This review aims to provide a comprehensive list of molecular defects in Silver?Russell syndrome reported to date and to highlight the importance of multiple-loci/tissue testing and trio (both parents and proband) screening. The epigenetic and phenotypic overlaps with other imprinting disorders will also be discussed.