Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia

Vincenza Valenti, Antonina Giammanco, Maurizio Averna, Angelo Baldassare Cefalu', Maria Donata Panno, Valeria Ingrassia, Carlo Maria Barbagallo, Davide Noto, Rossella Spina, Vincenza Valenti, Rossella Spina, Angelo B. Cefalu, Valeria Ingrassia, Davide Noto, Maurizio R. Averna, Antonina Ganci

Risultato della ricerca: Articlepeer review

14 Citazioni (Scopus)


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 in the proband, and her brother with a late in life expression 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.
Lingua originaleEnglish
pagine (da-a)2694-2699
Numero di pagine6
RivistaArteriosclerosis, Thrombosis, and Vascular Biology
Stato di pubblicazionePublished - 2015

All Science Journal Classification (ASJC) codes

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