What two rare ‘social’ syndromes reveal about autism

BY Katherina Walz

The genetic underpinnings of autism are complex and hard to parse in most cases. Scientists have identified at least
100 genes that contribute to autism. But there are a few rare syndromes in which a single mutation can lead to the
social and behavioral characteristics of autism.

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Studies now starting!

Adults 17 years and older needed! 

Since the first patient with duplication 17p11.2 was evaluated at Texas Children’s Hospital in 1996, we have had the opportunity to evaluate dozens of children with what is now called Potocki-Lupski syndrome. These clinical and laboratory evaluations have allowed us to publish several articles in the medical literature. These articles are easily accessible to physicians around the world so that they can become more aware of and learn about PTLS and thereby provide better medical and developmental care for children with this chromosomal duplication. 

Sadly, there is very little available in the medical literature regarding the clinical, intellectual, and behavioral features in adults with PTLS. Because of this, it has been challenging for physicians to make medical recommendations and give accurate information to families like yours who have teenagers and young adults with PTLS.

With this in mind Dr. Potocki, Dr. Lupski and Dr. Neira are inviting individuals with PTLS who are age 17 years or older (and their parents or guardians) to help us in our quest to gather information! We know that a trip to TCH is not feasible for all of you, but we welcome the opportunity to collaborate with you and try to better understand PTLS. We would like to initiate these studies with a questionnaire, and with your permission follow that with a telephone interview and review of medical records (including your Chromosomal Microarray or FISH test that confirmed the PTLS diagnosis).

We will review this information very carefully and compile it in a format to be published in the medical literature (no names will be used of course)! Our ultimate goal is to provide valuable information about PTLS for families, teachers, and health care providers worldwide, so that adults with PTLS can have the best care possible. If you would like to participate in this study, or if you have questions please email Dr. Neira (Juanita.Neira@bcm.edu) at Baylor College of Medicine.

Study of Dental Pulp in PTLS Individuals

Dr. Lawrence T. Reiter at the University of Tennessee Health Science Center in Memphis, TN, is conducting a research study to determine if neurons can be grown from the dental pulp of individuals with various neurogenetic syndromes including Potocki-Lupski Syndrome….READ MORE

Delaware Dave’s Walk

On April 9, 2013, a family member of one of our PTLS children decided to make yet another journey and hike a 2,650 mile hike on the Pacific Crest Trail, in honor of Potocki-Lupski Syndrome. As an uncle to a child diagnosed with PTLS and a wonderful supporter of the Foundation, Delaware Dave has shared his fantastic triumphs and beautiful photos from his journey. When asked as to why he walks, Delaware Dave responded with “it’s hard to put down in words something that is so monumental and all that this means to me. READ MORE

Dr. Jim Lupski Receives 2014 EMGS Award!

Baylor College of Medicine professor of molecular and human genetics Dr. Jim Lupski was recently named the recipient of the 2014 Environmental Mutagenesis and Genomics Society Award for recognition of his landmark work characterizing human mutations and linking them to disease. The Society gives this award to one researcher a year for outstanding research contributions in the area of environmental mutagenesis and genomics. READ MORE

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