Renpenning Syndrome 1

What is Renpenning Syndrome 1?

It is a rare genetic syndrome that affects mainly males. It causes developmental delay, intellectual disability and distinct facial and physical features that characterize the syndrome.

Currently the syndrome has been diagnosed in more than 60 individuals in just 15 families worldwide.

What gene changes cause Renpenning Syndrome 1?

Mutations in the PQBP1 gene are responsible for causing the syndrome.

It is inherited in an X-linked recessive pattern. This makes it much more common in males. Males have just one X chromosome, and need just one mutated copy of the gene to be affected by the syndrome. For females, this mutation would have to be present on both copies of their X chromosome, an event that is very unlikely. Most females are only carriers for the syndromes, as fathers affected can not pass it on to their sons.

What are the main symptoms of Renpenning Syndrome 1?

Unique facial features are one of the main symptoms of the syndrome. These features include a short stature, small head, long and narrow face, a long and bulbous nose, a short philtrum and ears that are cup shaped.

Individuals with certain features of the syndrome were often diagnosed with Golabi-Ito-Hall or Sutherland-Haan syndrome. However these rare diseases all have the same genetic cause and are now diagnosed under Renpenning syndrome.

Symptoms may also affect the skeletal muscles, specifically a wasting away. Individuals with the syndrome may also suffer from seizures.

Underdeveloped testes are also a common symptom that presents with the disease.

How does someone get tested for Renpenning Syndrome 1?

The initial testing for Renpenning Syndrome 1 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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