“How many things are looked upon as quite impossible until they have been actually effected?”

PTLS HOPE RESEARCH FOUNDATION IS DEDICATED TO PROMOTING & ADVANCING MEDICAL SCIENCE THAT LEADS TO A BETTER UNDERSTANDING OF POTOCKI LUPSKI SYNDROME & THE DISCOVERY OF POTENTIAL TREATMENTS

What is Potocki Lupski Syndrome?

Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11.2. This condition is also known as 17p11.2 duplication syndrome. Scientists know that the duplicated gene Rai1 within the duplicated area is the cause of Potocki Lupski Syndrome.

Every person is born with 23 pairs of Chromosomes (one set from each parent).

Sometimes duplications (extra DNA), deletions (missing DNA), or mutations (changed DNA) can occur – we do not know why PTLS happens and in most cases it is completely random however, in a few rare cases its inherited by a parent who also has the condition. (Only a few cases of this are known in the world currently).

Chromosomes are split into 2 parts – short arm known as (P) and long arm known as (q).

Each chromosome is split into regions or areas (like coordinates). PTLS occurs on the region designated 11.2.

A gene is a short section of DNA. Your genes contain instructions that tell your cells to make molecules called proteins. Proteins perform various functions in your body to keep you healthy. Each gene carries instructions that determine different functions in the body – too much or too little of a genes expression can create a huge impact and imbalance in the body.

The Gene known as Rai1 (Retinoic induced acid 1) is in this region or area and is always part of the duplicated genes – because there will be 3 copies instead of the normal 2 copies in those with PTLS – the gene will overexpress RAi1 protein causing the symptoms of Potocki Lupski Syndrome.

So: 17=(chromosome) p=(shortarm) 11.2=(area or region effected).

The duplication will be described in size by MB – some duplications may be bigger (encompassing more genes duplicated) or smaller than others however, research, suggests this won’t make any difference to the severity of the syndrome.

If you have a duplication in this area but it does not include the Rai1 gene its not classified as PTLS, however, please join our FB group as there are others who have this duplication without the Rai1 gene also and it may be useful to speak with them. The FB group link is in the top menu.

Where there is a missing copy of Rai1 (deletion) this is called ~ Smith Magenis Syndrome.

When faced with healthcare professionals the best was to describe Potocki Lupski Syndrome to them is - My child has a duplicated dose sensitive gene on their 17th Chromosome - its Called Potocki Lupski Syndrome

if they ask which gene - its RAI1 (Retenoic Acid Induced 1)

National library of Medicine

For a comprehensive overview of Potocki Lupski Syndrome you can also visit the National Library of Medicine page for Potocki Lupski Syndrome.

How is Potocki Lupski Syndrome Diagnosed?

Most of the time, genetic disorders are diagnosed through a specific test, which can include examining chromosomes or DNA (the tiny proteins that make up genes), or testing the blood for certain enzymes that may be abnormal.

Array CGH testing is now considered to be the front line test for patients presenting with developmental delay (motor or growth), autism spectrum disorder, moderate to severe learning difficulties, dysmorphic features, with or without congenital abnormalities.

Chromosome abnormalities can be associated with developmental delay, autism spectrum disorder, learning difficulties, dysmorphic features and other congenital abnormalities.

Array CGH can detect smaller genetic changes than is possible by conventional karyotyping, and can provide accurate information on the size and possible consequences of the gains (duplications) or losses (deletions) identified. Multiple studies have shown that Array CGH, when applied to appropriate patients, will detect up to three times more pathogenic chromosome imbalances than karyotyping due to its greater precision and sensitivity.

Array CGH testing is now considered to be the front line test for patients presenting with developmental delay (motor or growth), autism spectrum disorder, moderate to severe learning difficulties, dysmorphic features, with or without congenital abnormalities. Consortiums
in the USA and many EU countries have adopted Array CGH as the front line test in this patient cohort.

Array CGH is now more frequently used for prenatal studies as an adjunct or replacement for conventional cytogenetic studies, particularly where structural fetal abnormalities are seen at ultrasound scan but also at a patient’s or doctor’s request. The technique may also be utilized as a follow up test to characterise anomalies detected by a previous study (e.g. an apparently balanced de novo rearrangement or marker chromosome).

Who Discovered Potocki Lupski Syndrome?

The name of the syndrome is associated with the two researchers who described it, Dr Lorraine Potocki and Dr James R. Lupski.

Both Doctors work at Baylor College of Medicine in Texas, USA.

Lorraine Potocki, M.D., F.A.C.M.G. – Positions

Professor - Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas, United States

Director - Medical Student Curriculum in Genetics and Medical Student Genetics and Genomics Pathway
Baylor College of Medicine

Vice Chair, Educational Affairs - Molecular and Human Genetics
Baylor College of Medicine

Dr Potocki has been instrumental in encouraging us to set up PTLS Hope in order to pursue medical research. We are thankful for her ongoing support.

James R Lupski, M.D., Ph.D., D.Sc. (hon) – Positions

The Cullen Foundation Endowed Chair in Molecular Genetics – Molecular and Human Genetics
Baylor College of Medicine
Houston, Texas, United States 

Professor - Pediatrics
Baylor College of Medicine

Professor - Program in Integrative and Molecular and Biomedical Sciences
Baylor College of Medicine

Professor - Program in Translational Biology & Molecular Medicine
Baylor College of Medicine

Member - Dan L Duncan Comprehensive Cancer Center
Baylor College of Medicine
Houston, Texas, United States

 We are incredibly thankful for the support we have had from Dr. Lupski. His Lab and work has and continues to be of great importance to furthering our research into Potocki Lupski Syndrome.

Symptoms of Potocki Lupski Syndrome

Potocki Lupski Syndrome is characterized by many symptoms. Here is an exhaustive list of known symptoms split by physical designation (you may not experience all of these symptoms and some maybe worse than others.) For Example not all those with PTLS will experience heart defects. Some children may reach an average level of comprehension while others may experience severe intellectual disability. PTLS can be described for these reasons as a spectrum type syndrome.

Heart defects can effect 30-40% of those diagnosed with PTLS it is important to have this checked immediately after a PTLS diagnosis and to have regular check ups bi-annually

Neurological Symptoms –

  • Anxiety

  • OCD

  • ADHD

  • Speech Delay (some may remain non verbal)

  • Intellectual Disability

  • Learning Difficulties – mild, moderate to severe

  • Comprehension

  • Developmental Delays

 Other Symptoms –

  • Heart Defects (which can be fatal if not treated)

  • Failure to Thrive

  • Low growth hormone

  • Poor feeding, Trouble eating (some children may need medical intervention feeding, G tube etc.)

  • Low muscle tone

  • Low body weight

  • Delayed crawling, walking etc.

  • Weak throat muscles due to poor muscle tone

  • Poor fine motor skills – holding cutlery, writing etc.

  • Kidney issues – which will require checking upon diagnosis and throughout life

  • Headaches &  migraines

  • Sensitivity to sound & light

  • Issues with sight & hearing

  • Poor sleep routine due to disruption of circadian rhythm

  • Dental issues – malformation

  • Sensory issues – similar to Autism like behaviours, however, Autism is a separate diagnosis to PTLS

Physical Features – (sometimes described as subtle dysmorphic features)

  • Wide nose bridge

  • Slight (some more pronounced than others) downturn to eyes

  • Curved fingernail on little finger

  • Curved nails on toes (often overgrowing)

 Early intervention can be very beneficial for children who receive a Potocki Lupski diagnosis ~ speak with your Doctor about accessing some of the below services for your child – or join our FB community for more advice from other parents. (link at top of the page)

  • Physical Therapy

  • Occupational Therapy

  • Feeding Therapy

  • Speech Therapy

Join the PTLS RAI1 - Patient Registry

Your unique story is a crucial piece in our mission to treat Potocki Lupski Syndrome. Join our patient registry and become a vital force in driving forward research, insights, and potential treatments for this condition.

Join us in this collective endeavor as we stand together, united in our determination to make a meaningful impact on the lives affected by Potocki Lupski Syndrome. Your contribution matters in our journey toward a brighter, healthier tomorrow.

By registering, you empower our dedicated team of researchers with invaluable information that fuels our efforts to understand and combat this syndrome. Your participation is a beacon of hope, guiding us toward a future where solutions are within reach.

Your support doesn’t stop there. Consider making a donation to further bolster our research efforts. Every contribution fuels our mission, propelling us closer to tangible solutions for this syndrome.

Together, let's transform hope into reality. Register, share, and donate—your actions today are the building blocks of a brighter future for those impacted by Potocki Lupski Syndrome.