Regina Célia Mingroni-Netto

Regina Célia Mingroni-Netto

Dr. Mingroni-Netto is associate professor and teaches molecular biology and human genetics, in the in Department of Genetics and Evolutionary Biology, Institute of Biosciences (IBUSP), since 1995. She graduated as a Bachelor in Biology, USP, in 1984; She obtained her MS degree (1988) and the PhD degree (1994) in the same institution, under the supervision of Dr. Angela Vianna Morgante, one of the followers of Professor Oswaldo Frota-Pessoa deep interest in the establishment of genetic counseling in Brazil . During her doctor program, she received training in molecular genetics applied to human genetics in the University Central Hospital in Helsinki, Finland. She was also a post-doc in the Department of Genetics and Evolutionary Biology, but after six months of grant, she obtained a position as assistant professor. She is the Coordinator of the post-graduate studies program in Biology/Genetics (IBUSP), since 2008. She is also a counselor member of Conselho Regional de Biologia, CRBio-1.

Having started her scientific life in human cytogenetics, her trajectory changed into molecular aspects of many different hereditary disorders, like, fragile X syndrome, hereditary hearing loss, limb defects, sickle cell disease and complex disorders (hypertension and obesity). Her group is also interested in population aspects of molecular variation, relating susceptibility to disease to ancestrality of Brazilian populations.


Research Profile
Dr. Mingroni-Netto started her trajectory studying genetics of the fragile syndrome, an important cause of mental retardation. From that, the research group she founded investigated the variability in the gene that causes the syndrome in different population groups, to understand the origins of the mutation. Samples of South-American Indians and from people who live in remnants of quilombo, which are partially isolated African-derived populations known as Quilombos, were used to address this question. Following, the group became interested in the remnants of Quilombos in Vale do Ribeira- São Paulo and, in addition to studying diseases, such as sickle cell anemia, investigated the ancestry of these populations using molecular markers useful for admixture studies. The most frequent health problem found in Quilombos is hypertension, which seems to indicate a higher susceptibility to the disease in populations of African origin. Partial isolation makes these populations interesting tools for the investigation of genes associated with multifactorial diseases, like hypertension and obesity, which we also investigate.

Our group is also greatly interested in investigating genes and mutations related to hereditary hearing loss. Mapping studies are conducted in order to find new genes and mutations related to this condition. Another priority related to research on hearing loss is the study of the functioning of cochlea proteins. We use cultivated cochlear cells from mice and guinea pigs in this research. This study should help in understanding the function of novel genes and proteins related to hearing loss.

Our group presently includes three post-doctoral fellows, one PhD student, one MSc students, one graduate technical professional, and one under-graduated student .


Diagnostic and counselling activities
Since 2000 we have investigated hereditary hearing loss and provide genetic counseling to families with cases of deafness. Our team performs mutation testing for the genes most frequently altered in this condition in the Brazilian population.


Total number: 49


10 favourite publications:

  1. Kimura L, Ribeiro-Rodrigues EM, Auricchio MTBM, Vicente JP, Batista-Santos SE, Mingroni-Netto RC – Genomic ancestry of rural African-derived populations from Southeastern Brazil. Am J Hum Biol 25(1): 35-41, 2013.
  2. Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Thiele-Aguiar RC, Lezirovitz K, Mingroni-Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordass U, Hempel M, Rajab A, Makitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S – Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. J Med Genet 49(2): 119-125, 2012.
  3. Angeli CB, Kimura L, Auricchio MTBM, Vicente JP. Mattevi, VS, Zembrzuski VM, Hutz MH, Pereira AC, Pereira TV, Mingroni-Netto RC – Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in Brazilian populations. Obesity 19: 1244-1251, 2011.
  4. LEZIROVITZ, K., BRAGA, M. C. C., Thiele-Aguiar, Renata Soares, AURICCHIO, M. T. B. M., Pearson P L, OTTO, P. A., MINGRONI-NETTO, R. C., A novel autosomal dominant deafness locus (DFNA58) maps to 2p12-p21. Clinical Genetics. , v.75, p.490 – 493, 2009.
  5. Romanos J, Kimura L, Fávero ML, Izarra FAR, Auricchio MTBM, Batissoco AC, Lezirovitz K, Abreu-Silva RS, Mingroni-Netto RC – Novel OTOF mutations in Brazilian patients with auditory neuropathy. J Hum Genet 54: 382-385, 2009.
  6. LEZIROVITZ, K., MAESTRELLI, S., COTRIM, N. H., OTTO, P. A., Pearson P L, MINGRONI-NETTO, R. C. A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1–17p13.3. Human Genetics. , v.123, p.625 – 631, 2008.
  7. 7. LEZIROVITZ, K , PARDONO, E., AURICCHIO, M. T. B. M., SILVA, F. L. C. E., LOPES, J. J., ABREU-SILVA, R. S., ROMANOS, J., BATISSOCO, A. C., MINGRONI-NETTO, R. C. Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness. European Journal of Human Genetics. , v.16, p.89 – 96, 2008.
  8. Lezirovitz K, Nicastro FS, Pardono E, Abreu-Silva RS, Batissoco AC, Neustein I, Spinelli M, Mingroni-Netto RC – Is autosomal recessive deafness associated with oculocutaneous albinism a coincidence syndrome? J Hum Genet 51: 716-720, 2006.
  9. Angeli CB, Capelli LP, Auricchio MTBM, Mesquita, ERRPL, Ribeiro-dos-Santos AK, Ferrari I, Oliveira SF, Guimarães MNK, Vianna-Morgante AM, Mingroni-Netto RC – AGG interspersion patterns in the CGG repeat of the FMR-1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations. Am J Med Genet 132A: 210-214, 2005.
  10. MINGRONI-NETTO, R. C., ANGELI, C. B., AURICCHIO, M. T. B. M., LEAL-MESQUITA, E. R. P. R. B. P., RIBEIRO-DOS-SANTOS, A. K., FERRARI, I., HUTZ, M., SALZANO, F. M., HILL, K., HURTADO, A. M. Distribution of CGG Repeats and FRAXAC1/DXS548 alleles in South American Populations. Am J Med Genet , v.111, p.243 – 252, 2002.