Celia Priszkulnik Koiffmann

Celia Priszkulnik Koiffmann

Dr Koiffmann received her basic training in Biology in the Department of Biology, Institute of Biosciences, University of São Paulo, Brazil where she completed her MSc and PhD. She has always worked on human chromosomal disorders, in particular the Prader-Wili and Angelman syndromes. She is a principal investigator in the Human Genome Center at USP and the National Institute of Stem Cells in Genetic Diseases, USP.

 

Research Profile
Our laboratory is focused on the following projects:
1) Syndromic obesity (obesity in association with intellectual disability and other congenital abnormalities) can represent a diagnostic challenge, because of the phenotypic overlap between diseases with different etiologies. Investigation of genes in patients with syndromic obesity (differential diagnosis of Prader-Willi syndrome) will allow us to identify critical genomic regions involved in the manifestation of obesity, hyperphagia and behavioral disturbances.

2) Chromosomal alterations: investigation of mechanisms of chromosome rearrangements by molecular cytogenetic techniques, describing new syndromes and the phenotypic variability of syndromes already reported.

3) Investigation of Angelman syndrome patients and Angelman syndrome-like patients with molecular techniques aiming at characterizing genetic mechanisms and their association with the phenotypic variability.

4) In vitro differentiation of stem cells derived from dental pulp of Prader-Willi and Angelman syndromes patients to characterize imprinting defects on human chromosome 15.

 

Diagnostic and counseling activities
The study of the genetic mechanisms involved in the investigated syndromes allows us to provide to the families the diagnosis, prognosis and recurrence risks.

 

Publications
Total number: 73
10 favorite publications

 

D’ANGELO, C. S. ; KOHL, Ilana ; VARELA, Monica Castro ; KIM, Chong Ae ; BERTOLA, D. R. ; LOURENÇO, Charles Marques ; PEREZ, A. B. A.; KOIFFMANN, C. P. . Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants. American Journal of Medical Genetics. Part A , v. 161, p. 479-486, 2013.

D’Angelo, C.S., Kohl, I., Varela, M.C., de Castro, C.I., Kim, C.A., Bertola, D.R., Lourenco, C.M. and Koiffmann, C.P. (2010) Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia. Am J Med Genet A, 152A, 102-110
D’ANGELO, Carla Sustek ; OLIVEIRA, Mariana Angelozzi de ; CASTRO, Cláudia I e de ; KOIFFMANN, C. P. Molecular cytogenetic characterization of an inherited maternal duplication 20p11.21p13 associated with a small 20p11.21 deletion. American Journal of Medical Genetics. Part A , v. 152A, p. 3197-3302, 2010.

D’Angelo, C.S., Gajecka, M., Kim, C.A., Gentles, A.J., Glotzbach, C.D., Shaffer, L.G. and Koiffmann, C.P. (2009) Further delineation of nonhomologous-based recombination and evidence for subtelomeric segmental duplications in 1p36 rearrangements. Hum Genet, 125, 551-563.
FAGALI, Cláudia Quadros ; KOK, Fernando ; KIM, Chong Ae ; BERTOLA, Debora R ; ALBANO, L M J ; KOIFFMANN, C. P. MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported. European Journal of Medical Genetics , v. 52, p. 333-336, 2009.

D’Angelo, C.S., Jehee, F.S. and Koiffmann, C.P. (2007) An inherited atypical 1 Mb 22q11.2 deletion within the DGS/VCFS 3 Mb region in a child with obesity and aggressive behavior. Am J Med Genet A, 143A, 1928-1932.

Varela, M.C., Krepischi-Santos, A.C., Paz, J.A., Knijnenburg, J., Szuhai, K., Rosenberg, C. and Koiffmann, C.P. (2006) A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenet Genome Res, 114, 89-92.

VARELA, Monica Castro ; SATO, Alex Yuri Simões ; KIM, Chong Ae ; BERTOLA, Debora R ; CASTRO, Cláudia I e de ; KOIFFMANN, C. P. A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM 1 gene deletion in 87 patients with syndromic obesity. European Journal of Medical Genetics , v. 49, p. 298-305, 2006.

Varela, M.C., Kok, F., Otto, P.A. and Koiffmann, C.P. (2004) Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet, 12, 987-992.

VARELA, Monica Castro ; KOK, Fernando ; KIM, Chong A ; SETIAN, N. ; KOIFFMANN, C. P. . Impact of Molecular Mechanisms, Including Deletion Size, on Prader-Willi Syndrome Phenotype: Study of 75 Patients. Clinical Genetics , USA, v. 67, p. 47-52, 2005