Sandbox89220: Difference between revisions
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PMM2 is very critical during the early development of embryo, it's shown in experiment that the disruption of the genes causes the embryonic lethality. Also, the homozygosity of R141H (mutated allele) on the PMM2 gene is incompatible with life. In addition, it's reported that wide spectrum of clinical manifestations is due to different mutation sites on the PMM2 genes, certain mutations are demographically specific, however, the most common mutation is the R141H amongst the patients from all around the world<ref>Quelhas et al.,Congenital Disorder of Glycosylation Type Ia: Searching | PMM2 is very critical during the early development of embryo, it's shown in experiment that the disruption of the genes causes the embryonic lethality. Also, the homozygosity of R141H (mutated allele) on the PMM2 gene is incompatible with life. In addition, it's reported that wide spectrum of clinical manifestations is due to different mutation sites on the PMM2 genes, certain mutations are demographically specific, however, the most common mutation is the R141H amongst the patients from all around the world<ref>Quelhas et al.,Congenital Disorder of Glycosylation Type Ia: Searching | ||
for the Origin of Common Mutations in PMM2[http://onlinelibrary.wiley.com/doi/10.1111/j.1469-1809.2006.00334.x/pdf]</ref>. The patients will show psychomotoric retardation, muscle hypotonia, abnormal eye movements, inverted nipples, abnormal adipose tissue distribution, and slightly enlarged liver<ref>Presentation of congenital disorders of glycosylation type 1a[http://ovidsp.tx.ovid.com/sp-3.4.0b/ovidweb.cgi?WebLinkFrameset=1&S=POBMFPKBJHDDKEEJNCCLCAMCPPNGAA00&returnUrl=ovidweb.cgi%3f%26Full%2bText%3dL%257cS.sh.15.16%257c0%257c00006565-201003000-00011%26S%3dPOBMFPKBJHDDKEEJNCCLCAMCPPNGAA00&directlink=http%3a%2f%2fgraphics.tx.ovid.com%2fovftpdfs%2fFPDDNCMCCAEJJH00%2ffs047%2fovft%2flive%2fgv024%2f00006565%2f00006565-201003000-00011.pdf&filename=Presentation+of+Congenital+Disorders+of+Glycosylation+Type+1a.&pdf_key=FPDDNCMCCAEJJH00&pdf_index=/fs047/ovft/live/gv024/00006565/00006565-201003000-00011]</ref>. | for the Origin of Common Mutations in PMM2[http://onlinelibrary.wiley.com/doi/10.1111/j.1469-1809.2006.00334.x/pdf]</ref>. The patients will show psychomotoric retardation, muscle hypotonia, abnormal eye movements, inverted nipples, abnormal adipose tissue distribution, and slightly enlarged liver<ref>Presentation of congenital disorders of glycosylation type 1a[http://ovidsp.tx.ovid.com/sp-3.4.0b/ovidweb.cgi?WebLinkFrameset=1&S=POBMFPKBJHDDKEEJNCCLCAMCPPNGAA00&returnUrl=ovidweb.cgi%3f%26Full%2bText%3dL%257cS.sh.15.16%257c0%257c00006565-201003000-00011%26S%3dPOBMFPKBJHDDKEEJNCCLCAMCPPNGAA00&directlink=http%3a%2f%2fgraphics.tx.ovid.com%2fovftpdfs%2fFPDDNCMCCAEJJH00%2ffs047%2fovft%2flive%2fgv024%2f00006565%2f00006565-201003000-00011.pdf&filename=Presentation+of+Congenital+Disorders+of+Glycosylation+Type+1a.&pdf_key=FPDDNCMCCAEJJH00&pdf_index=/fs047/ovft/live/gv024/00006565/00006565-201003000-00011]</ref>. [[Image:Human eyesight two children and ball with retinitis pigmentosa or tunnel vision.png|left|thumb|Human eyesight two children and ball with retinitis pigmentosa]] | ||
The table below show CDG symptoms for different stages: | The table below show CDG symptoms for different stages: | ||
[[Image:CDG Stages.jpg|600px|left||[[CDG stages]]]] | |||
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