Welcome to Potocki-Lupski Syndrome Outreach Foundation, Inc, a non-profit 501(c)(3), a place for support, advice, guidance, and family interaction. PTLS is a rare chromosome Duplication of 17p11.2 that is predicted to reach 1 in 20,000 children. When the first child in the United States was diagnosed with Potocki-Lupski Syndrome, in 1991, and studied in 1996, very little was known about duplication 17p11.2, many questions and very few answers. As more children are being diagnosed, we see there are many similarities, with some variations. This duplication has a spectrum of symptoms and characteristics, found in both boys and girls. Some of the children have a small area duplicated, others with a larger band of duplication. Some children have other chromosomal differences as well. These variations will present themselves in various health and developmental issues.
One thing we do know, is that these beautiful children are happy, full of life, and filled with talents that may seem hidden, but given time and maturity, they will show themselves. Patience and time to mature brings about many wonderful developments. Celebrate your child for who they are, and know life will be ever changing for them. Through the tears of some of the challenges, great joy will shine through.
What is PTLS?:
Potocki-Lupski syndrome (PTLS), also known as dup(17)p11.2p11.2 syndrome, trisomy 17p11.2 or duplication 17p11.2 syndrome, is a microduplication involving the 11.2 band on the short arm (upper arm) of the human chromosome 17 (17p11.2). The RAI1 gene plays a big part in the characteristics of PTLS. Some children have a added syndrome, called Charcot-Marie-Tooth (CMT, or 1A (CMT1A), which is a hereditary demyelinating peripheral neuropathy, associated with a DNA duplication on chromosome 17p12, The region next to the 17p11.2, known as Potocki-Lupski Syndrome.
The duplication was first described as a case study in 1996. Then, in 2000, the first study of the disorder was released, and in 2007, enough patients had been gathered to complete a comprehensive study, which gave it a detailed clinical description. World reknown geneticist, Dr. James Lupski, has established a mouse model lab to help continue studying the behaviors and health issues connected to this duplication. Potocki-Lupski Syndrome finally got its official name, in March of 2007. The first Potocki-Lupski Syndrome Family Conference was held in 2009, which discribed, in deatail, all the research findings need to understand a great majority of what PTLS is. Due to the difficulty in testing for this in the past, there have been just a few adults diagnosed with this, therefore, limiting the studies to children. Now with the newer testing, called Microarray, the doctors can now diagnose those adults and children who would have been missed in the past. With the growing number of adults being diagnosed, we can now get a bigger picture of what the future holds for the children.
PTLS is named for two researchers involved in the latter phases, Drs. Lorraine Potocki and James R. Lupski of the Baylor College of Medicine in Houston, Texas.
Potocki-Lupski Syndrome Outreach Foundation, Inc
Plano, Texas 75025
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PTLS Foundation is focused on raising awareness of this rare chromosome duplication, bringing about education to the healthcare and education providers, and supporting research.
He went on to complete his postdoctoral work at New York University in 1986 and completed a residency in pediatrics and fellowship in medical genetics at Baylor College of Medicine.
Lupski's research interests include determining the molecular mechanisms for disease using human genetic approaches to investigate clinical phenotypes. A major focus is the molecular genetics of Charcot-Marie-Tooth (CMT) disease and related inherited demyelinating peripheral neuropathies. Additional efforts are aimed at determining the molecular mechanism for contiguous gene syndromes. Other human genetic disease gene mapping research involves collaborative efforts with Dr. Richard A. Lewis to map rare, recessively inherited eye disorders.
Lupski's work has appeared in such publications as Science, Annals of Neurology and Nature Genetics.
Other PositionsProfessor, Department of Pediatrics; Programs in Cell & Molecular Biology and Translational Biology & Molecular Medicine
Lorraine Potocki, M.D., F.A.C.M.G.
Professor, Department of Molecular and Human Genetics
B.A., Boston University, 1983
M.D., Boston University School of Medicine, 1987
Resident, Pathology, University of Massachusetts, 1993
Fellow, Fetal and Perinatal Pathology, Brown University, 1994
Fellow, Medical Genetics, Baylor College of Medicine, 1996
American Board of Pathology: Clinical Pathology
American Board of Medical Genetics: Clinical Genetics
Member, American Society of Human Genetics
Fellow, American College of Medical Genetics
Professional Advisory Board Member, Parent and Researchers Interested in Smith-Magenis Syndrome (PRISMS) Professional Advisory Board
Developmental disorders and congenital anomalies
My primary interest involves the diagnosis, counseling, and management of individuals with developmental and genetic disorders. I direct the medical student curriculum in Genetics, and serve on curriculum committees at the School of Medicine and School of Allied Health Sciences. My research involves the multi-disciplinary clinical study and characterization of Smith-Magenis syndrome (SMS), duplication 17p11.2 syndrome (Potocki-Lupski syndrome, PTLS), and the Potocki-Shaffer syndrome (PSS).