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Molecular and Human Genetics

Houston, Texas

Department of Molecular and Human Genetics
Department of Molecular and Human Genetics
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Lorraine Potocki, M.D., F.A.C.M.G.

Lorraine Potocki, M.D., F.A.C.M.G.

Professor of Molecular and Human Genetics

Other Positions

Director, Medical Student Curriculum in Genetics and Medical Student Genetics Track


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

Board Certifications

American Board of Pathology: Clinical Pathology
American Board of Medical Genetics: Clinical Genetics

Professional Organizations

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

Clinical Interests

Developmental disorders and congenital anomalies

Research Interests

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).


FISH picture of dup17p11.2

SMS is associated with a heterozygous deletion within 17p11.2 or point mutation of RAI1 that maps within 17p11.2. While the phenotype is variable among patients with the same sized deletion, most patients have cognitive impairment, neurobehavioral abnormalities, and sleep disturbances including an inversion of the circadian rhythm of melatonin. Clinical evaluations have been completed through the General Clinical Research Center (GCRC) at the Texas Children's Hospital (TCH). Evaluation of individuals with point mutations of RAI1 will help determine genotype-phenotype correlation.

Duplication 17p11.2 represents the reciprocal recombination of the common SMS deletion. The clinical phenotype of persons with dup17p11.2 is distinct from that of SMS and consists of infantile hypotonia and failure to thrive, mildly dysmorphic facial features, cognitive impairment, and autistic features. Although sleep disturbances are not recognized clinically, patients evaluated in the GCRC were found to have sleep disordered breathing such as central and obstructive sleep apnea. Cardiovascular anomalies are seen in approximately 50 percent of patients. Persons with duplication 17p11.2 are being recruited for clinical evaluations in the GCRC, and for molecular analyses. Clinical comparisons of PTLS and SMS, in conjunction with molecular analyses, will provide insight as to dosage sensitivity and the roles of the genes within this region.

PSS is a contiguous gene deletion syndrome due to an interstitial deletion within the short arm of chromosome 11 [ del(11)(p11.2p12)]. Clinical findings of PSS include mental retardation, multiple exostoses, biparietal foramina, and genital anomalies in males. The presence of multiple exostoses is associated with deletion of EXT2 and the presence of biparietal foramina is associated with the deletion of ALX4. Specific genes related to mental retardation or other abnormalities have yet to be identified. Individuals with duplication of this region have also been identified.

Selected Publications

  1. Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L (2012). Cardiovascular findings in duplication 17p11.2 syndrome. Genet. Med. 14(1): 90-4. PubMed PMID: 22008663
  2. Dhar SU, Alford RL, Nelson E, Potocki L (2012). Enhancing exposure to genetics and genomics through an innovative medical school curriculum. Genet. Med. 14(1): 163-7. PubMed PMID: 21952425
  3. Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L (2011). Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am. J. Med. Genet. A. 155A(8): 2024-7. PubMed PMID: 21739587
  4. Soler-Alfonso C, Motil KJ, Robbins-Furman P, Friedman EJ, Eifret A, Fraley K, Potocki L (2011). Potocki-Lupski syndrome—A microduplication syndrome associated with oral pharyngeal dysphasia and failure to thrive. J. Pediatr. 158(4): 655-659. PubMed PMID: 21168152
  5. Berg JS, Potocki L, Bacino CA (2010). Common recurrent microduplication syndromes: diagnosis and management in clinical practice. Am. J. Med. Genet. A. 152A(5): 1066-78. PubMed PMID: 20425813
  6. Zhang F, Potocki L, Sampson JB, Liu P, Sanchez-Valle A, Robbins-Furman P, Navarro AD, Wheeler PG, Spence JE, Brasington CK, Withers MA, Lupski JR (2010). Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am. J. Hum. Genet. 86(3): 462-70. PubMed PMID: 20188345
  7. Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L (2010). Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management. Am. J. Med. Genet. A. 152A(3): 565-72. PubMed PMID: 20140962
  8. Treadwell-Deering DE, Powell MP, Potocki L (2010). Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2). J. Dev. Behav. Pediatr. 31(2): 137-43. PubMed PMID: 20110824
  9. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, Glaze D, Krull K, Lee JA, Lewis RA, Mendoza-Londono R, Robbins-Furman P, Shaw C, Shi X, Weissenberger G, Withers M, Yatsenko SA, Zackai EH, Stankiewicz P, Lupski JR (2007). Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am. J. Hum. Genet. 80(4): 633-49. PubMed PMID: 17357070
  10. Madduri N, Peters SU, Voight RG, Llorent AM, Lupski JR, Potocki L (2006). Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J. Dev. Behav. Pediatr. 27(3): 188-92. PubMed PMID: 16775514

Contact Information

Lorraine Potocki, M.D., F.A.C.M.G.
Texas Children's Hospital
6621 Fannin St. Mail Code: CC-1560
Houston, TX 77030, U.S.A.

Phone: 832-822-4290
Fax: 832-825-4294

dup 17p11.2 GCRC protocol

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