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

Content Provider	Springer Nature : BioMed Central
Author	Montenegro Junior, Renan Magalhães Lima, Grayce Ellen da Cruz Paiva Fernandes, Virgínia Oliveira Montenegro, Ana Paula Dias Rangel Ponte, Clarisse Mourão Melo Martins, Lívia Vasconcelos Pinheiro, Daniel Pascoalino de Moraes, Maria Elisabete Amaral de Moraes Filho, Manoel Odorico d’Alva, Catarina Brasil
Abstract	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.Leu124Serfs26). 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.Leu124Serfs26) 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 Leu124Serfs26, a novel AGPAT2 frameshift mutation, presenting as early cardiovascular disease. These findings suggest an association between Leu124Serfs26 and a more aggressive phenotype.
Related Links	https://dmsjournal.biomedcentral.com/counter/pdf/10.1186/s13098-020-00538-y.pdf
Ending Page	9
Page Count	9
Starting Page	1
File Format	HTM / HTML
ISSN	17585996
DOI	10.1186/s13098-020-00538-y
Journal	Diabetology & Metabolic Syndrome
Issue Number	1
Volume Number	12
Language	English
Publisher	BioMed Central
Publisher Date	2020-04-06
Access Restriction	Open
Subject Keyword	Diabetes Metabolic Diseases Endocrinology AGPAT2 Congenital generalized lipodystrophy Cardiovascular disease
Content Type	Text
Resource Type	Article
Subject	Endocrinology, Diabetes and Metabolism Internal Medicine
Journal Impact Factor	3.4/2023
5-Year Journal Impact Factor	4.1/2023

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
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4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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