Carbohydrate-deficient glycoprotein syndrome - type 1h - ALG8 mutations

What is Carbohydrate-deficient glycoprotein syndrome - type 1h - ALG8 mutations?

Carbohydrate-deficient glycoprotein syndrome - type 1h - ALG8 mutations is a rare disease. It is also known as ALG8-CDG ALG8CDG CDG1h.

A child born to first cousin parents reported by had failure to thrive, was constipated and made poor visual contact. At 6 months she showed a type I transferrin pattern, but sequencing of PMM2 was normal. She was hypotonic, delayed and had abnormal fat distribution. There was periorbital fullness, extra fols of skin in the neck and she gradually went into renal, hepatic, cardiac failure and died. A patient reported by Kouwenberg et al., (2014) had excessive skin wrinling, extra skin folds, oedema and fat pads
Fifteen patients (3 new) were analysed by Hock et al., (2015). In 13 there were symptoms from birth and 9 died within the first 12 months. Hydrops was noted in 3 and edema in 11/13. GIT symptomes (diarrhea, vomiting, feeding problems, liver problems) were found in 9/14. There was thrombocytopwnia in 9/9 and a coagulopathy in 8/11. Of the facial dysmorphism, macroglossia was common. Cataracts were another major feature as were skin involvement (fat pads, wrinkly skin, lax skin, inverted nipples).

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What gene changes cause Carbohydrate-deficient glycoprotein syndrome - type 1h - ALG8 mutations?

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 1h - ALG8 mutations?

The typical symptoms of the syndrome are:

How does someone get tested for Carbohydrate-deficient glycoprotein syndrome - type 1h - ALG8 mutations?

The initial testing for Carbohydrate-deficient glycoprotein syndrome - type 1h - ALG8 mutations 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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