Potocki-Lupski Syndrome

Last update 08 May 2025

Basic Info

Synonyms

17p11.2 Duplication Syndrome, 17p11.2 microduplication syndrome, 17p11.2 microduplication syndrome (disorder)

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Introduction

A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11.

Clinical Trials associated with Potocki-Lupski Syndrome

NCT06274164

/ RecruitingNot ApplicableIIT

Clinical and Molecular Biomarker Studies in RAI1-Related Disorders

Currently, there is no clinically available genetic-based treatment for RAI1 (Retinoic Acid-Induced 1) -related disorders other than symptomatic management and there are no established clinical or molecular biomarkers that could be used as measures for the efficacy of therapy in future treatment studies. Biomarkers are measures of what is happening inside the body, shown by the results of laboratory, imaging or other tests.
Biomarkers can help doctors and scientists diagnose diseases and health conditions, monitor responses to treatment and see how a person's disease or health condition changes over time.
The goal of this observational and laboratory study is to develop clinical, neurophysiology and molecular biomarkers in RAI1-related disorders. The main question[s] it aims to answer are:
to characterize the disease features more precisely and analyze the differentiating and overlapping features of RAI1-related disorders (Smith-Magenis syndrome and Potocki-Lupski Syndrome)
to identify clinical, neurophysiology, and laboratory biomarkers that differentiate RAI1-related disorders one from another.
Participants will have to complete:
a clinical examination
a blood draw
a skin biopsy (optional)
a sleep study
Researchers will compare patients' blood to control group's blood for biomarker studies.

Start Date13 Mar 2024

Sponsor / Collaborator

Baylor College of Medicine

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100 Clinical Results associated with Potocki-Lupski Syndrome

100 Translational Medicine associated with Potocki-Lupski Syndrome

0 Patents (Medical) associated with Potocki-Lupski Syndrome

135

Literatures (Medical) associated with Potocki-Lupski Syndrome

04 Mar 2025·Orbit

Human papilloma virus (HPV) presence in primary tumors of the lacrimal sac: a case series and review of the literature

Review

Author: Bordonne, Corinne ; Haigh, Oscar ; Rousseau, Antoine ; Labetoulle, Marc ; Racy, Emmanuel ; Barreau, Emmanuel ; Boucher, Rafael

Primary tumors of the lacrimal sac (PTLS) are a rare subtype of ocular adnexa tumors, with potentially life-threatening clinical course. There has been growing evidence of human papilloma virus (HPV) as an etiological agent in these tumors.In this retrospective observational case series, we report three cases of PTLS. All three underwent an initial dacryocystorhinostomy revealing a tissular mass in the lacrimal sac. Histological findings were respectively epithelial papilloma, epithelial Malpighian papilloma, and undifferentiated epidermoid carcinoma. PCR evaluation identified HPV serotype 6 in the first case and 16 in the third, and high p16 expression was found in the second case.These three cases of PTLS with HPV detection complement 36 other cases identified in the literature, further incriminating HPV in the pathogenesis of these neoplasms. Ophthalmologists must remain wary of chronic lacrimal occlusion symptoms, and resort to CT scan and orbital Doppler sonography whenever first-line treatment fails.

01 Jan 2025·Journal of Obstetrics and Gynaecology Research

The role of persistent right umbilical vein in the diagnosis of fetal genetic syndromes

Article

Author: Akalın, Munip ; Demirci, Oya ; Kahramanoğlu, Özge ; Dizdaroğulları, Gizem Elif ; Ocal, Aydın

AbstractIntroductionPersistent right umbilical vein (PRUV) is an embryonic vascular abnormality. Recent studies suggested that the perinatal outcome was good and the risk of aneuploidy was low in isolated forms. Our purpose in this study was to assess the relation of PRUV with genetic abnormalities and demonstrate concomitant malformations and perinatal outcomes of these fetuses.Materials and MethodsThis was a retrospective study examining consecutive pregnancies diagnosed as having PRUV in our hospital between 2017 and 2022.ResultsA total of 41 patients were diagnosed as having fetuses with PRUV during the study period. Additional ultrasound findings were detected in 26 fetuses (63.4%). The most common associated finding was fetal growth restriction, which was found in 15 (36.5%) of 41 fetuses. This was followed by cardiovascular findings in eight (19.5%) fetuses. Genetic anomalies were detected in five (12.1%) fetuses. Down syndrome was detected in two fetuses (4.8%), nail‐patella syndrome in one fetus (2.4%), duplication of 7p was found in one fetus (2.4%), and Potocki‐Lupski syndrome (2.4%) was diagnosed in one fetus.ConclusionIn our study we found that even in isolated cases, genetic syndromes could coexist and fetal growth could be impaired so it should be closely monitored.

01 Sep 2024·Special Care in Dentistry

Dental findings and intravenous sedation in a patient with Potocki–Lupski syndrome: A case report

Article

Author: Shinozuka, Osamu ; Maeda, Shigeru ; Kusumoto, Yasuka ; Fukayama, Haruhisa ; Wakita, Ryo

AbstractAimsPotocki–Lupski syndrome (PTLS), which is caused by the partial duplication of the short arm of autosome 17, is characterized by feeding difficulties associated with muscle hypotonia and dysphagia in infancy, followed by growth retardation and low body weight in later stages. Speech and motor developmental disorders are observed in childhood, accompanied by autism spectrum disorders in several cases. Other disorders include dental and skeletal abnormalities, and associated sleep apnea. Herein, we describe the first case of dental evaluation and treatment under intravenous sedation in a patient with PTLS.MethodsA 13‐year‐old boy with PTLS and intellectual disability was referred for the treatment of dental caries. Routine intraoral examination and dental treatment were not feasible. As the patient had no muscle hypotonia, dysphagia, or severe growth delay, intraoral examination and dental treatment were successfully performed under intravenous sedation. No incidence of intraoral airway obstruction or aspiration was reported. The patient was followed‐up post‐operatively.ConclusionPTLS, a newly identified syndrome, is associated with cardiovascular abnormalities, dysphagia, failure to thrive, and sleep apnea, which are potential risk factors for sedation. This case report highlights the importance of facial and oral findings in determining the risks of difficulties in airway management.

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