Angela Maria Vianna-Morgante

Angela Maria Vianna-Morgante

Dr. Vianna-Morgante is professor in the Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo. She graduated in Biology (1968) from the Federal University of Bahia, and received her MSc (1968) and PhD (1974) degrees in Biology/Genetics from the University of São Paulo. She is a member of the Brazilian Academy of Sciences and of the Academy of Sciences of the State of São Paulo, and a Research Fellow of the National Council for Scientific and Technological Development. She was Editor-in-Chief (2006-2010) of the journal Genetics and Molecular Biology, published by the Brazilian Society of Genetics, currently being its Associate Editor. She was a member of the Board of Directors of the Brazilian Society of Genetics (1990-1992; 2000-2002), and a member of the International Standing Committee on Human Cytogenetic Nomenclature (1996-2001; 2001-2006). Her research centers on Human Genetics and Cytogenetics.

 

Research Profile
Origin, mechanisms of formation and clinical effects of chromosomal aberrations have always been a focus of her research. Her study of fragile X syndrome, which is the most common cause of inherited intellectual disability, evolved from the cytological to the gene level, in the investigation of genotype-phenotype correlations and population aspects. In a development of the study of fragile X syndrome, the search for genetic mechanisms causing X-linked intellectual disability became part of her research.

 

Genetic Diagnosis and Counseling
The research group offers diagnostic tests and genetic counseling for developmental disorders. Around 20,000 families have been attended (September, 2013).

 

Publications
Total number of scientific articles: 101
10 representative publications:

FONSECA AC, BONALDI A, BERTOLA DR, KIM CA, OTTO PA, VIANNA-MORGANTE AM. 2013. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. BMC Med Genet. 2013 doi: 10.1186/1471-2350-14-50.

FONSECA AC, BONALDI A, COSTA SS, FREITAS MR, KOK F, VIANNA-MORGANTE AM. 2013. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl. Clin Genet 83:169-74.

LAURELL T, LUNDIN J, ANDERLID BM, GORSKI JL, GRIGELIONIENE G, KNIGHT SJ, KREPISCHI AC, NORDENSKJÖLD A, PRICE SM, ROSENBERG C, TURNPENNY PD, VIANNA-MORGANTE AM, NORDGREN A. 2013. Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet doi: 10.1038/ejhg.2012.306. [Epub ahead of print].

BONALDI A, MAZZEU JF, COSTA SS, HONJO RS, BERTOLA DR, ALBANO LM, FURQUIM IM, KIM CA, VIANNA-MORGANTE AM. 2011. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome. Am J Med Genet A 155:2479-831.

KREPISCHI AC, ROSENBERG C, COSTA SS, CROLLA JA, HUANG S, VIANNA-MORGANTE AM. 2010. A novel de novo microdeletion spanning the SYNGAP1 gene on the short arm of chromosome 6 associated with mental retardation. Am J Med Genet A. 152A: 2376-8.

CARVALHO CM, ZHANG F, LIU P, PATEL A, SAHOO T, BACINO CA, SHAW C, PEACOCK S, PURSLEY A, TAVYEV YJ, RAMOCKI MB, NAWARA M, OBERSZTYN E, VIANNA-MORGANTE AM, STANKIEWICZ P, ZOGHBI HY, CHEUNG SW, LUPSKI JR. 2009. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 18:2188-203.

MAZZEU JF, KREPISCHI-SANTOS AC, ROSENBERG C, SZUHAI K, KNIJNENBURG J, WEISS JMM, KERKIS I, MUSTACCHI Z, COLIN G, MOMBACH R, PAVANELLO RCM, OTTO PA, VIANNA-MORGANTE, AM .2007. Chromosome abnormalities in two patients with features of autosomal dominant Robinow syndrome. Am J Med Genet 143A: 1790-95.

GONÇALVES MRR, CAPELLI LP, NITRINI R, BARBOSA ER, PORTO CS, LUCATO LT, VIANNA-MORGANTE AM. 2007. Atypical clinical course of FXTAS: rapidly progressive dementia as the major symptom. Neurology 68: 1864-66.

NASCIMENTO MP, OTTO PA, BROWER APM and VIANNA MORGANTE AM. 2006. UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndrome Am J Hum Genet. 79: 549 – 55.

MINGRONI-NETTO RC, ANGELI CB, AURICCHIO MTBM, LEAL-MESQUITA ER, RIBEIRO-DOS-SANTOS AKC, FERRARI I, HUTZ MH, SALZANO FM, HILL K, HURTADO AM, VIANNA-MORGANTE AM. 2002. Distribution of CGG repeats and FRAXAC1/DXS548 alleles in South American populations. Am J Med Genet 111: 243-52