Lorraine Potocki, M.D., F.A.C.M.G.
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Positions
- Professor
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Molecular and Human Genetics
Baylor College of Medicine
Houston, TX US
- Director
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Medical Student Curriculum in Genetics and Medical Student Genetics and Genomics Pathway
Baylor College of Medicine
- Vice Chair, Educational Affairs
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Molecular and Human Genetics
Baylor College of Medicine
Education
- BA from Boston University
- 01/1983 - Boston, MA United States
- MD from Boston University School Of Medicine
- 01/1987 - Boston, MA United States
- Residency at University Of Massachusetts Medical School
- 01/1993 - Worcester, MA United States
- Pathology
- Fellowship at Brown University
- 01/1994 - Providence, Rhode Island United States
- Fetal and Perinatal Pathology
- Clinical Fellowship at Baylor College Of Medicine
- 01/1996 - Houston, Texas United States
- Medical Genetics
Certifications
- American Board of Pathology
- American Board of Pathology
- Clinical Pathology
- Clinical Genetics
- American Board of Medical Genetics
Professional Interests
- Clinical characterization of selected genomic disorders; undergraduate medical education
Professional Statement
As a clinical geneticist, I strive to provide the most comprehensive and compassionate care to individuals with developmental and genetic disorders. As a medical educator, I strive to engender curiosity in all learners and help foster an environment that is conducive to collaborative learning and discovery.My clinical research interest stems from experience in the characterization of Potocki-Shaffer syndrome (PSS), Smith-Magenis syndrome (SMS; deletion 17p11.2), and Potocki-Lupski syndrome (PTLS; duplication 17p11.2).
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 intellectual disability, multiple exostoses, biparietal foramina and genital anomalies in males. The presence of multiple exostoses is associated with deletion of EXT2, the presence of biparietal foramina is associated with the deletion of ALX4, and haploinsufficiency of PHF21A is associated with intellectual disability and craniofacial anomalies. Individuals with duplication of this region have also been identified.
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 severe sleep disturbances including an inversion of the circadian rhythm of melatonin. Cardiovascular anomalies—observed in less than 50%—include septal defects, and in more severe cases, obstruction of the right ventricular outflow tract as seen in tetralogy of Fallot. While not thoroughly investigated, growth hormone deficiency may play a role in the short stature and obesity phenotype observed in SMS.
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 autism spectrum. Although sleep disturbances are less of a concern for individuals with PTLS, many have sleep-disordered breathing. Cardiovascular anomalies are seen in approximately 50 percent of patients and include left ventricular outflow tract anomalies such as hypoplastic left heart and bicuspid aortic valve. Growth hormone deficiency is observed in a subset of our PTLS cohort.
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.
Websites
Selected Publications
- Franciskovich R, Soler-Alfonso C, Neira-Fresneda J, Lupski JR, McCann-Crosby B, Potocki L "Short stature and growth hormone deficiency in a subset of patients with Potocki-Lupski syndrome: Expanding the phenotype of PTLS.." Am J Med Genet A.. 2020;182:2077-2084.
- Kaplan KA, Elsea SH, Potocki L "Management of sleep disturbances associated with Smith-Magenis syndrome.." CNS Drugs. 2020;34:723-730.
- Markovitz R, Ghosh R, Kuo ME, Hong W, Lim J, Bernes S, Manberg S, Crosby K, Tanpaiboon P, Bharucha-Goebel D, Bonnemann C, Mohila CA, Mizerik E, Woodbury S, Bi W, Lotze T, Antonellis A, Xiao R, Potocki L "GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.." Am J Med Genet A.. 2020;182:1167-1176.
- Varon A, Whitt Z, Kalika PM, Potocki L, Barbouth DS, Walz K "Arnold-Chiari type 1 malformation in Potocki-Lupski syndrome." Am J Med Genet A.. 2019;179:1366-1370.
- Murali C, Fernbach SD, Potocki L "Handing the pen to the patient: reflective writing for children and families affected by genetic conditions." Am J Med Genet A. 2014 Dec;164(12):3021-6. Pubmed PMID: 25256956
- Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. "Inherited dup(17)(p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome.." Am J Med Genet A. 2014 Feb;164(2):500-4. Pubmed PMID: 24311450
- Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L "Cardiovascular findings in duplication 17p11.2 syndrome.." Genet. Med.. 2012 Jan;14(1):90-4. Pubmed PMID: 22237436
- Dhar SU, Alford RL, Nelson EA, Potocki L "Enhancing exposure to genetics and genomics through an innovative medical school curriculum.." Genet. Med.. 2012 Jan;14(1):163-7. Pubmed PMID: 22237446
- Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L "Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.." Am. J. Med. Genet. A. 2011 Aug;155(8):2024-7. Pubmed PMID: 21739587
- Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L "Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal Dysphagia and failure to thrive.." J. Pediatr.. 2011 Apr;158(4):655-659.e2. Pubmed PMID: 21168152
- Berg JS, Potocki L, Bacino CA "Common recurrent microduplication syndromes: diagnosis and management in clinical practice.." Am. J. Med. Genet. A. 2010 May;152(5):1066-78. Pubmed PMID: 20425813
- 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 "Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS.." Am. J. Hum. Genet.. 2010 Mar 12;86(3):462-70. Pubmed PMID: 20188345
- Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L "Potocki-Shaffer syndrome: Comprehensive clinical assessment, review of the literature, and proposals for medical management.." Am. J. Med. Genet. A. 2010 Mar;152(3):565-72. Pubmed PMID: 20140962
- Treadwell-Deering DE, Powell MP, Potocki L "Cognitive and behavioral characterization of the Potocki-Lupski syndrome (duplication 17p11.2).." J Dev Behav Pediatr.;31(2):137-43. Pubmed PMID: 20110824
- 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 "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.. 2007 Apr;80(4):633-49. Pubmed PMID: 17357070
- Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L "Cognitive and adaptive behavior profiles in Smith-Magenis syndrome.." J Dev Behav Pediatr. 2006 Jun;27(3):188-92. Pubmed PMID: 16775514
- Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, Summers AM, Meschino WS, Anyane-Yeboa K, Kashork CD, Shaffer LG, Lupski JR "Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion.." Nat. Genet.. 2000 Jan;24(1):84-7. Pubmed PMID: 10615134
Memberships
- Parent and Researchers Interested in Smith-Magenis Syndrome (PRISMS) Professional Advisory Board
- Member
- American College of Medical Genetics
- Fellow
- American Society of Human Genetics
- Member
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