The Quantification and Analysis of Methylation of Human Imprinting Genes in Russell-Silver Syndrome
Date Issued
2008
Date
2008
Author(s)
Chien, I-Lei
Abstract
Abstractypomethylation of the IGF2/H19 locus is associated with a severe phenotype in Silver-Russell syndrome.ussell-Silver syndrome (RSS) is a rare congenital disorder.The major characteristic of RSS include intrauterine growth retardation (IUGR) , lack of postnatal catch-up growth, triangular face, body asymmetry and 5th finger clinodactylyand.Affected individuals may also have diverse symptoms such as developmental delay, delayed speech, feeding difficulties, café au lait spots, muscular hypotonial and hypoglycemia.The clinical picture is extremely diverse.ecently finding,the mode of inheritance is variable with sporadic cases also being described.The etiology of RSS is heterogeneous, but recently hypomethylation of the IGH2/H19 locus is known to explain 50% of the cases. We analyzed 28 patients who fitted in three or more of the five criteria for RSS (IUGR, lack of catch-up growth, characteristic face, asymmetry, and 5th finger clinodactyly). We identified H19 hypomethylation in 7 cases (25%). H19 hypomethylation was correlated to the methylation status of the IGF2 control region. Phenotype analysis revealed a high incidence of preservation of head circumference in cases with IGF2/H19 hypomethylation. When we employed a stricter diagnostic criteria that both IUGR and lack of catch-up growth being essential, a portion of the cases were classified into the SRS-like syndrome, but the percentage of IGF2/H19 hypomethylation in SRS became higher. IGF2/H19 hypomethylation occurred in both RSS and RSS-like syndromes in this study. These materials will be crucial in future researches on the growth retardation syndromes.
Subjects
Russell-Silver syndrome
Methylation
Imprinting gene
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