Lorraine Potocki, M.D., F.A.C.M.G.
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Positions
- Professor
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Molecular and Human Genetics
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Houston, TX US
- Director
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Medical Student Curriculum in Genetics and Medical Student Genetics and Genomics Pathway
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- Vice Chair, Educational Affairs
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Molecular and Human Genetics
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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鈥攐bserved in less than 50%鈥攊nclude 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 "." Am J Med Genet A. 2014 Dec;164(12):3021-6. Pubmed PMID:
- Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, Potocki L. "." Am J Med Genet A. 2014 Feb;164(2):500-4. Pubmed PMID:
- Jefferies JL, Pignatelli RH, Martinez HR, Robbins-Furman PJ, Liu P, Gu W, Lupski JR, Potocki L "." Genet. Med.. 2012 Jan;14(1):90-4. Pubmed PMID:
- Dhar SU, Alford RL, Nelson EA, Potocki L "." Genet. Med.. 2012 Jan;14(1):163-7. Pubmed PMID:
- Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L "." Am. J. Med. Genet. A. 2011 Aug;155(8):2024-7. Pubmed PMID:
- Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L "." J. Pediatr.. 2011 Apr;158(4):655-659.e2. Pubmed PMID:
- Berg JS, Potocki L, Bacino CA "." Am. J. Med. Genet. A. 2010 May;152(5):1066-78. Pubmed PMID:
- 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 "." Am. J. Hum. Genet.. 2010 Mar 12;86(3):462-70. Pubmed PMID:
- Swarr DT, Bloom D, Lewis RA, Elenberg E, Friedman EM, Glotzbach C, Wissman SD, Shaffer LG, Potocki L "." Am. J. Med. Genet. A. 2010 Mar;152(3):565-72. Pubmed PMID:
- Treadwell-Deering DE, Powell MP, Potocki L "." J Dev Behav Pediatr.;31(2):137-43. Pubmed PMID:
- 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 "." Am. J. Hum. Genet.. 2007 Apr;80(4):633-49. Pubmed PMID:
- Madduri N, Peters SU, Voigt RG, Llorente AM, Lupski JR, Potocki L "." J Dev Behav Pediatr. 2006 Jun;27(3):188-92. Pubmed PMID:
- 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 "." Nat. Genet.. 2000 Jan;24(1):84-7. Pubmed PMID:
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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