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Tytuł pozycji:

Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.

Tytuł :
Leu124Serfs*26, a novel AGPAT2 mutation in congenital generalized lipodystrophy with early cardiovascular complications.
Autorzy :
Montenegro Junior RM; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
Lima GEDCP; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
Fernandes VO; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
Montenegro APDR; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
Ponte CMM; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
Martins LV; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
Pinheiro DP; 2Drug Research and Development Center-NPDM, Universidade Federal do Ceará, Fortaleza, Brazil.
de Moraes MEA; 2Drug Research and Development Center-NPDM, Universidade Federal do Ceará, Fortaleza, Brazil.
de Moraes Filho MO; 2Drug Research and Development Center-NPDM, Universidade Federal do Ceará, Fortaleza, Brazil.
d'Alva CB; 1Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO), Faculdade de Medicina, Universidade Federal do Ceará, Rua Professor Costa Mendes, 1608, Rodolfo Teófilo, Fortaleza, Ceará 60416200 Brazil.
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Źródło :
Diabetology & metabolic syndrome [Diabetol Metab Syndr] 2020 Apr 06; Vol. 12, pp. 28. Date of Electronic Publication: 2020 Apr 06 (Print Publication: 2020).
Typ publikacji :
Journal Article
Język :
English
Imprint Name(s) :
Original Publication: [London] : BioMed Central
References :
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Contributed Indexing :
Keywords: AGPAT2; Cardiovascular disease; Congenital generalized lipodystrophy
Entry Date(s) :
Date Created: 20200414 Latest Revision: 20200928
Update Code :
20201218
PubMed Central ID :
PMC7137278
DOI :
10.1186/s13098-020-00538-y
PMID :
32280377
Czasopismo naukowe
Background: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder characterized by the near-total loss of subcutaneous adipose tissue soon after birth, resulting in ectopic fat deposition and severe metabolic disturbances. Most cases are caused by AGPAT2 or BSCL2 gene mutations. We aimed to report two unrelated CGL patients with a novel frameshift mutation in AGPAT2 (p.Leu124Serfs*26).
Methods: Clinical features and laboratory were obtained by medical interview and medical records review. DNA was extracted, amplified and sequenced. Mutation Taster was used to estimate the potential biological impact of the AGPAT2 mutations on the protein function.
Results: Patient 1: a 30-year-old woman with lipodystrophy phenotype at birth and diagnosis of diabetes at age 13 presented with severe hypertriglyceridemia and pancreatitis at age 17, hypertension and albuminuria at age 18, proliferative diabetic retinopathy with visual loss at age 25, and an acute myocardial infarction due to multivessel coronary disease during a hospitalization for forefoot amputation at age 29. At this time, she required hemodialysis due to end-stage renal disease. Patient 2: a 12-year-old girl with lipodystrophy phenotype and hypertriglyceridemia detected in the first year of life and abnormalities in the global longitudinal strain, evaluated by speckle-tracking echocardiography last year. Molecular analysis identified a c.369_372delGCTC (p.Leu124Serfs*26) AGPAT2 mutation in both unrelated patients, a compound heterozygous mutation in Patient 1, and homozygous mutation in Patient 2.
Conclusion: We describe two unrelated patients with type 1 CGL due to Leu124Serfs*26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs*26 and a more aggressive phenotype.
(© The Author(s) 2020.)
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