Paula and Bobby
Parents of Lillie
Carbohydrate-Deficient Glycoprotein syndrome Type IIE
What is Carbohydrate-Deficient Glycoprotein syndrome Type IIE?
Carbohydrate-Deficient Glycoprotein syndrome Type IIE is a rare disease. It is also known as CDG IIe Congenital disorder of glycosylation - type IIe.
Two sibs, born to consanguineous parents developed epilepsy soon after birth, and died within 10 weeks (Wu et al., 2004). A previous child had been similarly affected. Both sibs had perinatal asphyxia, had low-set dysplastic ears, micrognathia, a short neck and loose wrinkled skin (no pictures shown). They were floppy and had big livers and spleens. Jaundice developed. Radiologically, one had an absent humerus and the other had short limbs. There was a large cisterna magna. Isoelectric focusing indicated abnormal glycosylation and there was a reduction in serum sialic acid concentration. A mutation was found in the gene encoding COG-7, a subunit of the Golgi complex. This altered golgi trafficking resulting in dysruption of multiple glycsylation pathways.
Three new patients (including sibs) were reported by Morava et al., (2007). They looked remarkably the same. They were microcephalic, with a narrow, flat forehead, short wide nose, posteriorly rotated ears, short neck, failure to thrive, bowel pseudo-obstruction, VSD, adducted thumbs and wrinkled skin. There were episodes of extreme hyperthermia. Note the sibs reported by Zeevaert et al., (2009). There were feeding problems, failure to thrive, diarrheoa, hepatomegaly, recurrent infections and a cardiomyopathy.
* This information is courtesy of the L M D.
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What gene changes cause Carbohydrate-Deficient Glycoprotein syndrome Type IIE?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Carbohydrate-Deficient Glycoprotein syndrome Type IIE?
The typical symptoms of the syndrome are:
How does someone get tested for Carbohydrate-Deficient Glycoprotein syndrome Type IIE?
The initial testing for Carbohydrate-Deficient Glycoprotein syndrome Type IIE can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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