Ivana Persico
Researcher
Area of interest:
Dr. Ivana Persico, graduated in Biological Sciences at the University of Sassari in 1996, started her experience at CNR in 1997 as post-graduated fellow, following a research project aimed to identify genetic factors predisposing to breast cancer. Then, during her PhD and for the next decade, she studied qualitative and quantitative genetic traits as risk factors associated with complex diseases in isolated populations. Over the past few years, her research has been based on rare Mendelian diseases and syndromic forms: from the molecular diagnosis of the Crisponi/Cold Induced Sweating syndrome type 1, to the dissection of the genetic basis of intellectual disability by next-generation sequencing technologies (NGS).
Since late 2019, her area of interest has been focused on clinical cancer genetics and precision oncology. In particular, she has been working on understanding the molecular mechanisms underlying the pathogenesis of Idiopathic Pulmonary Fibrosis (IPF) and its progression to lung cancer through NGS mutational analysis using multi-biomarker assays.
Most significant publications:
2019
Angius, A.; Uva, P.; Oppo, M.; Persico, I.; Onano, S.; Olla, S.; Pes, V.; Perria, C.; Cuccuru, G.; Atzeni, R.; Serra, G.; Cucca, F.; Sotgiu, S.; Hennekam, R. C.; Crisponi, L.
Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP Journal Article
In: 179 (4), pp. 634–638, 2019, ([DOI:hrefhttps://dx.doi.org/10.1002/ajmg.a.6105210.1002/ajmg.a.61052] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3073788730737887]).
@article{Angius2019,
title = {Confirmation of a new phenotype in an individual with a variant in the last part of exon 30 of CREBBP},
author = {Angius, A. and Uva, P. and Oppo, M. and Persico, I. and Onano, S. and Olla, S. and Pes, V. and Perria, C. and Cuccuru, G. and Atzeni, R. and Serra, G. and Cucca, F. and Sotgiu, S. and Hennekam, R. C. and Crisponi, L. },
year = {2019},
date = {2019-01-01},
volume = {179},
number = {4},
pages = {634--638},
abstract = {We report here a novel de novo missense variant affecting the last amino acid of exon 30 of CREBBP [NM_004380, c.5170G>A; p.(Glu1724Lys)] in a 17-year-old boy presenting mild intellectual disability and dysmorphisms but not resembling the phenotype of classical Rubinstein-Taybi syndrome. The patient showed a marked overweight from early infancy on and had cortical heterotopias. Recently, 22 individuals have been reported with missense mutations in the last part of exon 30 and the beginning of exon 31 of CREBBP, showing this new phenotype. This additional case further delineates the genotype-phenotype correlations within the molecular and phenotypic spectrum of variants in CREBBP and EP300.},
note = {[DOI:hrefhttps://dx.doi.org/10.1002/ajmg.a.6105210.1002/ajmg.a.61052] [PubMed:hrefhttps://www.ncbi.nlm.nih.gov/pubmed/3073788730737887]},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
Angius, A.; Uva, P.; Oppo, M.; Buers, I.; Persico, I.; Onano, S.; Cuccuru, G.; Van Allen, M. I.; Hulait, G.; Aubertin, G.; Muntoni, F.; Fry, A. E.; Anner?n, G.; Stattin, E. L.; Palomares-Bralo, M.; Santos-Simarro, F.; Cucca, F.; Crisponi, G.; Rutsch, F.; Crisponi, L.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses Journal Article
In: Clin Genet, 95 (5), pp. 607–614, 2019.
@article{pmid30859550,
title = {Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses},
author = {Angius, A. and Uva, P. and Oppo, M. and Buers, I. and Persico, I. and Onano, S. and Cuccuru, G. and Van Allen, M. I. and Hulait, G. and Aubertin, G. and Muntoni, F. and Fry, A. E. and Anner?n, G. and Stattin, E. L. and Palomares-Bralo, M. and Santos-Simarro, F. and Cucca, F. and Crisponi, G. and Rutsch, F. and Crisponi, L. },
year = {2019},
date = {2019-01-01},
journal = {Clin Genet},
volume = {95},
number = {5},
pages = {607--614},
abstract = {Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up.},
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}
2016
Angius, Andrea; Uva, Paolo; Buers, Insa; Oppo, Manuela; Puddu, Alessandro; Onano, Stefano; Persico, Ivana; Loi, Angela; Marcia, Loredana; Höhne, Wolfgang; Cuccuru, Gianmauro; Fotia, Giorgio; Deiana, Manila; Marongiu, Mara; Atalay, Hatice Tuba; Inan, Sibel; Assy, Osama El; Smit, Leo M E; Okur, Ilyas; Boduroglu, Koray; Utine, Gülen Eda; Kılıç, Esra; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa Journal Article
In: American Journal of Human Genetics, 99 (1), pp. 236–245, 2016, ISSN: 1537-6605.
@article{angius_bi-allelic_2016,
title = {Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa},
author = {Andrea Angius and Paolo Uva and Insa Buers and Manuela Oppo and Alessandro Puddu and Stefano Onano and Ivana Persico and Angela Loi and Loredana Marcia and Wolfgang H{ö}hne and Gianmauro Cuccuru and Giorgio Fotia and Manila Deiana and Mara Marongiu and Hatice Tuba Atalay and Sibel Inan and Osama {El Assy} and Leo M E Smit and Ilyas Okur and Koray Boduroglu and G{ü}len Eda Utine and Esra Kılı{ç} and Giuseppe Zampino and Giangiorgio Crisponi and Laura Crisponi and Frank Rutsch},
doi = {10.1016/j.ajhg.2016.05.026},
issn = {1537-6605},
year = {2016},
date = {2016-07-01},
journal = {American Journal of Human Genetics},
volume = {99},
number = {1},
pages = {236--245},
abstract = {Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) is a very rare autosomal-recessive disorder characterized by a complex phenotype with high neonatal lethality, associated with the following main clinical features: hyperthermia and feeding difficulties in the neonatal period, scoliosis, and paradoxical sweating induced by cold since early childhood. CS/CISS1 can be caused by mutations in cytokine receptor-like factor 1 (CRLF1). However, the physiopathological role of CRLF1 is still poorly understood. A subset of CS/CISS1 cases remain yet genetically unexplained after CRLF1 sequencing. In five of them, exome sequencing and targeted Sanger sequencing identified four homozygous disease-causing mutations in kelch-like family member 7 (KLHL7), affecting the Kelch domains of the protein. KLHL7 encodes a BTB-Kelch-related protein involved in the ubiquitination of target proteins for proteasome-mediated degradation. Mono-allelic substitutions in other domains of KLHL7 have been reported in three families affected by a late-onset form of autosomal-dominant retinitis pigmentosa. Retinitis pigmentosa was also present in two surviving children reported here carrying bi-allelic KLHL7 mutations. KLHL7 mutations are thus associated with a more severe phenotype in recessive than in dominant cases. Although these data further support the pathogenic role of KLHL7 mutations in a CS/CISS1-like phenotype, they do not explain all their clinical manifestations and highlight the high phenotypic heterogeneity associated with mutations in KLHL7.},
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pubstate = {published},
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2013
Köttgen, Anna; Albrecht, Eva; Teumer, Alexander; Vitart, Veronique; Krumsiek, Jan; Hundertmark, Claudia; Pistis, Giorgio; Ruggiero, Daniela; ...,; Ripatti, Samuli; Soranzo, Nicole; Toniolo, Daniela; Chasman, Daniel I; Raitakari, Olli; Kao, W H Linda; Ciullo, Marina; Fox, Caroline S; Caulfield, Mark; Bochud, Murielle; Gieger, Christian
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations Journal Article
In: Nature Genetics, 45 (2), pp. 145–154, 2013, ISSN: 1546-1718.
@article{kottgen_genome-wide_2013,
title = {Genome-wide association analyses identify 18 new loci associated with serum urate concentrations},
author = {K{ö}ttgen, Anna and Albrecht, Eva and Teumer, Alexander and Vitart, Veronique and Krumsiek, Jan and Hundertmark, Claudia and Pistis, Giorgio and Ruggiero, Daniela and ... and Ripatti, Samuli and Soranzo, Nicole and Toniolo, Daniela and Chasman, Daniel I and Raitakari, Olli and Kao, W H Linda and Ciullo, Marina and Fox, Caroline S and Caulfield, Mark and Bochud, Murielle and Gieger, Christian},
doi = {10.1038/ng.2500},
issn = {1546-1718},
year = {2013},
date = {2013-02-01},
journal = {Nature Genetics},
volume = {45},
number = {2},
pages = {145--154},
abstract = {Elevated serum urate concentrations can cause gout, a prevalent and painful inflammatory arthritis. By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4). Associations for many of the loci were of similar magnitude in individuals of non-European ancestry. We further characterized these loci for associations with gout, transcript expression and the fractional excretion of urate. Network analyses implicate the inhibins-activins signaling pathways and glucose metabolism in systemic urate control. New candidate genes for serum urate concentration highlight the importance of metabolic control of urate production and excretion, which may have implications for the treatment and prevention of gout.},
keywords = {},
pubstate = {published},
tppubtype = {article}
}
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