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Featured researches published by Valeria Ingrassia.


Arteriosclerosis, Thrombosis, and Vascular Biology | 2015

Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

Angelo B. Cefalù; Rossella Spina; Davide Noto; Vincenza Valenti; Valeria Ingrassia; Antonina Giammanco; Maria Donata Panno; Antonina Ganci; Carlo M. Barbagallo; Maurizio Averna

Objective—Cyclic AMP responsive element–binding protein 3–like 3 (CREB3L3) is a novel candidate gene for dominant hypertriglyceridemia. To date, only 4 kindred with dominant hypertriglyceridemia have been found to be carriers of 2 nonsense mutations in CREB3L3 gene (245fs and W46X). We investigated a family in which hypertriglyceridemia displayed an autosomal dominant pattern of inheritance. Approach and Results—The proband was a 49-year-old woman with high plasma triglycerides (⩽1300 mg/dL; 14.68 mmol/L). Her father had a history of moderate hypertriglyceridemia, and her 51-year-old brother had triglycerides levels as high as 1600 mg/dL (18.06 mmol/L). To identify the causal mutation in this family, we analyzed the candidate genes of recessive and dominant forms of primary hypertriglyceridemia by direct sequencing. The sequencing of CREB3L3 gene led to the discovery of a novel minute frame shift mutation in exon 3 of CREB3L3 gene, predicted to result in the formation of a truncated protein devoid of function (c.359delG–p.K120fsX20). Heterozygosity for the c.359delG mutation resulted in a severe phenotype occurring later in life in the proband and her brother and a good response to diet and a hypotriglyceridemic treatment. The same mutation was detected in a 13-year-old daughter who to date is normotriglyceridemic. Conclusions—We have identified a novel pathogenic mutation in CREB3L3 gene in a family with dominant hypertriglyceridemia with a variable pattern of penetrance.


Journal of Clinical Lipidology | 2017

Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred

Rossella Spina; Davide Noto; Carlo M. Barbagallo; Roberto Monastero; Valeria Ingrassia; Vincenza Valenti; Roberta Baschi; Antonina Pipitone; Antonina Giammanco; Maria P. La Spada; Gabriella Misiano; C. Scrimali; Angelo B. Cefalù; Maurizio Averna

BACKGROUND Autosomal recessive hypercholesterolemia (ARH) is a rare inherited lipid disorder. In Sardinia, differently from other world regions, the mutated allele frequency is high. It is caused by mutations in the low-density lipoprotein receptor adaptor protein 1 gene. Fourteen different mutations have been reported so far; in Sardinia, 2 alleles (ARH1 and ARH2) explain most of the cases. Four ARH patients, all carriers of the ARH1 mutation, have been identified in mainland Italy and 2 in Sicily. OBJECTIVE The objectives of the study were to improve the molecular diagnosis of familial hypercholesterolemia (FH) and to estimate the frequency of the ARH1 allele in 2 free-living Sicilian populations. METHODS We sequenced by targeted next-generation sequencing 20 genes related to low-density lipoprotein metabolism in 50 hypercholesterolemic subjects. Subjects from 2 free-living populations from Northern (Ventimiglia Heart Study, 848 individuals) and Southern Sicily (Zabut Zabùt Aging Project, 1717 individuals) were genotyped for ARH1 allele. RESULTS We identified 1 homozygous carrier of the ARH1 mutation among the 50 hypercholesterolemic outpatients. Population-based genotyping of ARH1 in 2565 subjects allowed the identification of 1 heterozygous carrier. The overall estimated allele frequency of ARH1 in Sicily was 0.0002 (0.02%). CONCLUSIONS The identification of a new case of ARH in Sicily among 50 clinically diagnosed FH highlights the importance of next-generation sequencing analysis as tool to improve the FH diagnosis. Our results also indicate that ARH1 carrier status is present in ∼1:2500 of Sicilian inhabitants, confirming that ARH is extremely rare outside Sardinia.


Atherosclerosis | 2018

Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of novel mutations in the APOB gene

Valeria Ingrassia; Rossella Spina; A.B. Cefalù; Vincenza Valenti; G.I. Altieri; C. Scrimali; Davide Noto; F. Brucato; Gabriella Misiano; Antonina Giammanco; Antonina Ganci; Francesca Fayer; C.M. Barbagallo; Maurizio Averna


Atherosclerosis | 2018

Cluster analysis of patterns generated from a web repository of HEPG2 transcriptomes. Genes of unknown functions coregulated in concert with cholesterol synthesis pathway

G.I. Altieri; Davide Noto; A.B. Cefalù; Antonina Giammanco; Francesca Fayer; Valeria Ingrassia; C. Scrimali; Rossella Spina; Vincenza Valenti; Gabriella Misiano; F. Brucato; Antonina Ganci; C.M. Barbagallo; Maurizio Averna


Atherosclerosis | 2018

Detection of copy number variations (CNVS) in LDLR gene by next generation sequencing in patients with familial hypercholesterolemia

C. Scrimali; Rossella Spina; Valeria Ingrassia; A.B. Cefalù; Vincenza Valenti; G.I. Altieri; Davide Noto; F. Brucato; Gabriella Misiano; Antonina Giammanco; C.M. Barbagallo; Antonina Ganci; Francesca Fayer; Maurizio Averna


Nutrition Metabolism and Cardiovascular Diseases | 2017

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing

Rossella Spina; Angelo B. Cefalù; Davide Noto; Valeria Ingrassia; Vincenza Valenti; Antonina Giammanco; Francesca Fayer; Gabriella Misiano; C. Scrimali; G.I. Altieri; Antonina Ganci; Carlo M. Barbagallo; Maurizio Averna


Nutrition Metabolism and Cardiovascular Diseases | 2017

Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia identified in the lipigen centre of Palermo

Antonina Giammanco; Rossella Spina; Valeria Ingrassia; Vincenza Valenti; C. Scrimali; Gabriella Misiano; G.I. Altieri; Francesca Fayer; C.M. Barbagallo; Antonina Ganci; Davide Noto; A.B. Cefalù; Maurizio Averna


Nutrition Metabolism and Cardiovascular Diseases | 2017

Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene

G.I. Altieri; Rossella Spina; Davide Noto; Valeria Ingrassia; Vincenza Valenti; Antonina Giammanco; Francesca Fayer; Gabriella Misiano; C. Scrimali; Antonina Ganci; C.M. Barbagallo; A.B. Cefalù; Maurizio Averna


Atherosclerosis | 2017

Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily

Antonina Giammanco; Rossella Spina; Valeria Ingrassia; Vincenza Valenti; C. Scrimali; Gabriella Misiano; G.I. Altieri; Francesca Fayer; Carlo M. Barbagallo; Antonina Ganci; Davide Noto; Angelo B. Cefalù; Maurizio Averna


Atherosclerosis | 2016

Genetic epidemiology of ARH in Sicily

Rossella Spina; Vincenza Valenti; Valeria Ingrassia; M.P. La Spada; C. Scrimali; Gabriella Misiano; Davide Noto; Ornella Palesano; G.I. Altieri; Vincenzo Licata; Francesca Fayer; Carlo M. Barbagallo; Angelo B. Cefalù; Maurizio Averna

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