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.
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 change causes Potocki-Lupski syndrome (PTLS)?
The syndrome is the result of an extra copy of 11.2 regions on the short arm of the 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.
Possible clinical traits/features:
Failure to thrive, Smooth philtrum, Feeding difficulties in infancy, Expressive language delay, EEG abnormality, Small for gestational age, Downslanted palpebral fissures, Echolalia, Dysphasia, Dental malocclusion, Dental crowding, Malformation of the heart and great vessels, Receptive language delay, Delayed myelination, Sleep apnea, Sporadic, Phenotypic variability, Prominent nasal tip, Microcephaly, Oral-pharyngeal dysphagia, Triangular face, Scoliosis, Neurological speech impairment, Muscular hypotonia, Intellectual disability, mild, Abnormality of dental morphology, Abnormality of chromosome segregation, Abnormal renal morphology, Language impairment, Low-set, posteriorly rotated ears, Mandibular prognathia, Micrognathia, Wide mouth, Trigonocephaly, Patent foramen ovale, Stereotypy, Autosomal dominant inheritance, Poor eye contact, Seizure, Apnea, Aplasia/Hypoplasia of the corpus callosum, Abnormality of the pharynx, Abnormality of the cardiovascular system, Attention deficit hyperactivity disorder, Autism.
How is it diagnosed?
To find out if someone has a diagnosis of Potocki-Lupski syndrome (PTLS), it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
