Potocki-Lupski syndrome (PTLS)

What is Potocki-Lupski syndrome (PTLS)?

Potocki-Lupski is a rare, recently identified genetic condition that can be difficult to diagnose based on routine chromosome analysis alone, as it is often missed with standard testing.

It was clinically described for the first time in 2007, but as early as 1996 was already attracting attention as a potential new syndrome.

There are just 1000 cases identified worldwide to date but improvements in chromosomal diagnosis are expected to increase that number higher.

The syndrome may also be referred to as duplication 17p11.2 syndrome.

What gene changes cause Potocki-Lupski syndrome (PTLS)?

The syndrome is the result of an extra copy of chromosome 17 on the short arm of chromosome 17.

It is inherited in an autosomal dominant pattern. n the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Potocki-Lupski syndrome (PTLS)?

While there are no unique facial features associated with the syndrome, other potential symptoms may include low muscle tone, poor feeding and a failure to thrive in infancy.

Delayed motor and speech development are common to the syndrome, as are Autism Spectrum Disorder type behaviors.

Heart defects and sleep apnea are possible other health conditions related to the syndrome.

How does someone get tested for Potocki-Lupski syndrome (PTLS)?

The initial testing for Potocki-Lupski syndrome 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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