Taxon:

Human

Gene:

"IG-DMR epimutation syndromes"

Chromosome:

14

Location:

14q32.2

Description:

Loss of methylation: A patient with clinical features of maternal UPD14, including growth retardation, hypotonia, scoliosis, small hands and feet, and advanced puberty, had loss of methylation of the the MEG3 promoter CpG island (which they refer to as the IG-DMR) but no evidence of maternal UPD14 (Temple IK et al, 2007). This case provided support for the hypothesis that the maternal UPD14 phenotype is due to aberrant gene expression within the imprinted domain at 14q32.
Gain of methylation: Three cases with methylation of the normally unmethylated maternal allele of IG-DMR showed a paternal-UPD(14)-like phenotype (Kagami M et al, 2008).

Category:

Other

Record:

1135

Last Modified 7/13/2011

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