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Genetics - Potocki Lupski

Houston, Texas

BCM pediatricians care for children in various clinical and hospital environments.
Potocki-Lupski Syndrome - Department of Molecular and Human Genetics
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Research Studies

Lorraine Potocki, M.D. and James R Lupski, M.D., Ph.D. are faculty members in the Department of Molecular and Human Genetics at Baylor College of Medicine and Texas Children’s Hospital. Since 1990, Dr. Lupski has been involved in the clinical and molecular investigations of deletion 17p11.2 (Smith-Magenis Syndrome or SMS) and uncovered the molecular mechanism of this microdeletion syndrome—thus establishing a molecular model for other microdeletion syndromes as well. Dr. Potocki joined Dr. Lupski’s laboratory as a postdoctoral fellow in 1995 to further investigate the clinical features of SMS. In 2000, they established the molecular mechanism for duplication 17p11.2 as the reciprocal product of the SMS microdeletion, and since that time have collaborated on investigations of Potocki-Lupski Syndrome (PTLS).

Presently, Dr. Potocki conducts the clinical research study at Texas Children's and Dr. Lupski is the principal investigator of the molecular research at BCM. Together, they have worked to define both the clinical and molecular characteristics of PTLS.

The Molecular Study

There is no cost to you to participate in the molecular research study. We will request blood samples from you and some family members in order to determine the size and parental origin of the duplication.

The Clinical Study

The purpose of the clinical protocol at The General Clinical Research Center at Texas Children's is to provide phenotype (clinical features) / genotype (molecular characterization) correlations of dup17p11.2 individuals through in depth systematic clinical assessments. We would like to determine the developmental processes and organ systems that are involved, determine the spectrum of clinical variability, and determine which genes within the rearranged segments are dosage sensitive and responsible for part or all of the clinical features.

The following procedures are part of the week-long clinical research study

  1. Physical examination and a complete history
  2. Otolaryngologic evaluation (search for abnormalities of the voice box, ear drum and middle ear, and the area of the inside of the nose and back of the throat)
  3. Developmental and behavioral testing
  4. Psychiatric testing for Autism Spectrum Disorder (Autism Diagnostic Interview and Autism Diagnostic Observation Schedule)
  5. Echocardiography and electrocardiogram (to look for heart defects and abnormalities of the rate and rhythm of the heart)
  6. Speech and Language evaluation
  7. Swallow function study

Frequently Asked Questions about PTLS Clinical and Research Studies

Faculty and Staff

Lorraine Potocki, M.D.
Professor
Molecular and Human Genetics

James R. Lupski, M.D., Ph.D.
Professor
Molecular and Human Genetics

Anna Eifert
Speech, Language & Learning

Ellen Friedman, M.D.
Professor
Otolaryngology-Head & Neck Surgery

Mary Paige Powell, Ph.D.
Assistant Professor
Allied Health

Marcelle Sulek, M.D.
Associate Professor
Otolaryngology-Head & Neck Surgery

Diane Treadwell-Deering, M.D.
Assistant Professor
Psychiatry & Behavioral Sciences

Pilar Magoulas, M.S.
Genetic Counselor
Molecular and Human Genetics
Phone: 832-822-4288
Fax: 832-825-4294
E-mail:

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