Boccuto, Luigi

Assistant Research Scientist

Boccuto, Luigi

Dr. Boccuto is a clinical geneticist who trained for several years under Professor Neri in Rome with a focus on in hereditary cancer, overgrowth syndromes and intellectual disability (ID) syndromes. Dr. Boccuto is currently an assistant research scientist at the JC Self Research Institute of the Greenwood Genetic Center. His main projects are focused on the study of the genetic causes of autism, ID, and conditions with segmental or generalized overgrowth. He is also characterizing the metabolic profiles of cells from patients with overgrowth, autism, ID, and other neurodevelopmental disorders.

Dr. Boccuto's Active Research Project Page

Contact Information

Office (864) 388-1045
Fax (864) 388-1808


  • Graduated in Medical School - Universita` Cattolica del Sacro Cuore, Rome, Italy, 2002
  • Award “Gianmichele Laccetti”, for a thesis in the genetic oncology, 2003
  • Postdoc Specialization in Medical Genetics - Universita` Cattolica del Sacro Cuore, Rome, Italy, 2006
  • Research Scholar - Greenwood Genetic Center, 2007-2013
  • Assistant Research Scientist - Greenwood Genetic Center, 2013-present

Selected Publications

  • Sarasua SM, Dwivedi A, Boccuto L, Chen CF, Sharp JL, Rollins JD, Collins JS, Rogers RC, Phelan K, Dupont BR. 22q13.2q13.32 genomic regions associated with severity of speech delay, developmental delay, and physical features in Phelan-McDermid syndrome. Genet Med. 2013 Oct 17.
  • Boccuto L, Aoki K, Flanagan-Steet H, Chen C-F, Fan X, Bartel F, Petukh M, Pittman AR, Saul R, Chaubey A, Alexov E, Tiemeyer M, Steet R, Schwartz CE. A Mutation in a Ganglioside Biosynthetic Enzyme, ST3GAL5, Results in Salt & Pepper Syndrome, a Neurocutaneous Disorder with Altered Glycolipid and Glycoprotein Glycosylation Hum Mol Genet. 2013 Sep 10.
  • Boccuto L, Chen CF, Pittman AR, Skinner CD, McCartney HJ, Jones K, Stevenson RE, Schwartz CE. Decreased tryptophan metabolism in patients with Autism Spectrum Disorders. Mol Autism. 2013.4:16.
  • Boccuto L, Lauri M, Sarasua SM, Skinner CD, Buccella D, Dwivedi A, Orteschi D, Collins JS, Zollino M, Visconti P, Dupont B, Tiziano D, Schroer RJ, Neri G, Stevenson RE, Gurrieri F, Schwartz CE. Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Eur J Hum Genet. 2013 Mar;21(3):310-6. doi: 10.1038/ejhg.2012.175. Epub 2012 Aug 15.
  • Sarasua SM, Dwivedi A, Boccuto L, Rollins JD, Chen CF, Rogers RC, Phelan K, DuPont BR, Collins JS. Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). J Med Genet 2011 Nov;48(11):761-6.
  • Carter MT, Geraghty MT, DeLa Cruz L, Reichard RR, Buccoto L, Schwartz CE, Clericuaio CL. A new syndrome with multiple capillary malformations, intractable seizures, and rain and limb anomalies. Am J Med Genet A 2011 Feb:155(2):301-6.
  • Jackson PB, Boccuto L, Skinner C, Collins JS, Neri G, Gurrieri F, Schwartz CE. Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder. Autism Res. 2009 Aug;2(4):232-6. doi: 10.1002/aur.87.
  • Lyons MJ, Graham JM Jr, Neri G, Hunter AG, Clark RD, Rogers RC, Moscarda M, Boccuto L, Simensen R, Dodd J, Robertson S, DuPont BR, Friez MJ, Schwartz CE, Stevenson RE. Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome J Med Genet. Jan;46(1):9-13. 2009.
  • Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, D'Angelo P, Collini P, Perotti D, Sebastio G, Maher ER, Riccio A. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Hum Mol Genet. May 15;17(10):1427-35.2008.
  • Lucci-Cordisco E, Boccuto L, Neri G, Genuardi M. The Use of Microsatellite Instability, Immunohistochemistry and Other Variables in Determining the Clinical Significance of MLH1 and MSH2 Unclassified Variants in Lynch Syndrome. Cancer Biomark. 2006;2(1-2):11-27. Review.
  • Boccuto L, Lapunzina P, Gurrieri F, Neri G. Diagnostic strategies in overgrowth syndromes. Ital J Pediatr 2006; 32: 81-100.
  • M. Agostini, M.G. Tibiletti, E. Lucci-Cordisco, A.Chiaravalli, H. Morreau, D. Furlan, L. Boccuto, S. Pucciarelli, C. Capella, M. Boiocchi, and A. Viel. Two PMS2 Mutations in a Turcot Syndrome Family with Small Bowel Cancers Am J Gastroenterol; 100: 1886-1891. 2005.
Meet Makayla Gunn

Meet Makayla Gunn

Makayla was diagnosed with Rett Syndrome in April of 2015 at the age of two.   At about 18 months, we noticed she had started some repetitive hand motions, and her pediatrician was a little concerned that she did not have many words.  She had learned some sign language, and was saying ‘mama’ and ‘dada’, but that was it.  Then she suddenly stopped all of that.  At her 2 year old check-up, the pediatrician referred us to BabyNet, ...

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