Hyperphosphatasia with Mental Retardation syndrome

What is Hyperphosphatasia with Mental Retardation syndrome?

Hyperphosphatasia with Mental Retardation syndrome is characterized by increased levels of the enzyme alkaline phosphatase in the blood. Known as hyper phosphatase, it causes no known health issues, but is often the first indication an individual has the syndrome.

The syndrome is characterized by intellectual disability, delayed psychomotor development, absent or very limited speech, and distinct facial features.

What gene changes cause Hyperphosphatasia with Mental Retardation syndrome?

The syndrome is caused by mutations in the PIGV, PIGO, PIGY, PIGW, PGAP2 and PGAP3 and PGAP2 genes. It is inherited in an autosomal recessive pattern.

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.

What are the main symptoms of Hyperphosphatasia with Mental Retardation syndrome?

The main initial symptom of the syndrome may vary from mild to severe. Intellectual disability is a major syndrome, as is limited to zero speech development. Delayed motor skill development is also common with the syndrome.

Facial and physical characteristics include wide-set eyes, long eyelid openings, a broad nasal bridge, a rounded nose tip, a thin upper lip, a downward pointing mouth. Further physical features include underdeveloped fingernails and short bones at the end of fingers. Low muscle tone is a common symptom.

Other health conditions may include seizures with muscle rigidity, convulsions and loss of consciousness. Some individuals suffer with digestive issues as well.

How does someone get tested for Hyperphosphatasia with Mental Retardation syndrome?

The initial testing for Hyperphosphatasia with Mental Retardation can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. 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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