Atypical Progeroid Syndrome and Partial Lipodystrophy Due to Gene P.R349W Mutation

Overview

Journal J Endocr Soc

Specialty Endocrinology

Date 2020 Sep 11

PMID 32913962

Citations 9

Authors

Silvia Magno

Giovanni Ceccarini

Caterina Pelosini

Federica Ferrari

Flavia Prodam

Donatella Gilio

Margherita Maffei

Maria Rita Sessa

Andrea Barison

Annamaria Ciccarone

Michele Emdin

Gianluca Aimaretti

Ferruccio Santini

Affiliations

Soon will be listed here.

Abstract

Atypical progeroid syndrome (APS) comprises heterogeneous disorders characterized by variable degrees of fat loss, metabolic alterations, and comorbidities that affect skeleton, muscles, and/or the heart. We describe 3 patients that were referred to our center for the suspicion of lipodystrophy. They had precocious aging traits such as short stature, mandibular hypoplasia, beaked nose, and partial alopecia manifesting around 10 to 15 years of age recurrently associated with: (1) partial lipodystrophy; (2) proteinuric nephropathy; (3) heart disease (rhythm disorders, valvular abnormalities, and cardiomyopathy); and (4) sensorineural hearing impairment. In all patients, genetic testing revealed a missense heterozygous lamin A/C gene () mutation c.1045 C > T (p.Arg349Trp). Ten patients with p.R349W mutation have been reported so far, all presenting with similar features, which represent the key pathological hallmarks of this subtype of APS. The associated kidney and cardiac complications occurring in the natural history of the disease may reduce life expectancy. Therefore, in these patients a careful and periodic cardiac and kidney function evaluation is required.

Citing Articles

Lipodystrophic Laminopathies: From Dunnigan Disease to Progeroid Syndromes.

Diaz-Lopez E, Sanchez-Iglesias S, Castro A, Cobelo-Gomez S, Prado-Morana T, Araujo-Vilar D Int J Mol Sci. 2024; 25(17).

PMID: 39273270 PMC: 11395136. DOI: 10.3390/ijms25179324.

Navigating Lipodystrophy: Insights from Laminopathies and Beyond.

Kruger P, Hartinger R, Djabali K Int J Mol Sci. 2024; 25(15).

PMID: 39125589 PMC: 11311807. DOI: 10.3390/ijms25158020.

Podocytopathies associated with familial partial lipodystrophy due to LMNA variants: report of two cases.

Morguetti M, de Menezes Neves P, Korkes I, Padilha W, Jorge L, Watanabe A Arch Endocrinol Metab. 2024; 68:e230204.

PMID: 38739524 PMC: 11156176. DOI: 10.20945/2359-4292-2023-0204.

Serum levels of adiponectin differentiate generalized lipodystrophies from anorexia nervosa.

Ceccarini G, Pelosini C, Paoli M, Tyutyusheva N, Magno S, Gilio D J Endocrinol Invest. 2024; 47(8):1881-1886.

PMID: 38358463 DOI: 10.1007/s40618-024-02308-3.

Deciphering the Clinical Presentations in LMNA-related Lipodystrophy: Report of 115 Cases and a Systematic Review.

Besci O, Foss de Freitas M, Guidorizzi N, Celik Guler M, Gilio D, Maung J J Clin Endocrinol Metab. 2023; 109(3):e1204-e1224.

PMID: 37843397 PMC: 10876415. DOI: 10.1210/clinem/dgad606.

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