Microcephaly – autosomal recessive – hypomyelination – PYCR2 mutations

What is Microcephaly - autosomal recessive - hypomyelination - PYCR2 mutations?

It is a recently identified genetic syndrome. Often also called hypomyelinating leukodystrophy type 10 with microcephaly this rare disorder has been identified mainly in families where the parents are related by blood. So far this has involved 11 families worldwide.

What gene changes cause Microcephaly - autosomal recessive - hypomyelination - PYCR2 mutations?

Mutations in the PYCR2 gene are responsible for causing the syndrome.

The syndrome is inherited in an autosomal recessive pattern.

What are the main symptoms of Microcephaly - autosomal recessive - hypomyelination - PYCR2 mutations?

The main symptoms of the syndrome include a failure to thrive following birth, as well as a low life expectancy with most affected individuals not surviving beyond ten years of age.

Other symptoms include psychomotor disability that progresses and worsens with age, hyperkinetic movements and low muscle tone.

Affected individuals have a small head and other unique facial features.

There is also some evidence of global brain atrophy in affected individuals.

How does someone get tested for Microcephaly - autosomal recessive - hypomyelination - PYCR2 mutations?

The initial testing for Microcephaly - autosomal recessive - hypomyelination - PYCR2 mutationse 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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