Atypical progeroid syndrome and partial lipodystrophy due to LMNA gene p.R349W mutation

11Citations
Citations of this article
24Readers
Mendeley users who have this article in their library.

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 (LMNA) mutation c.1045 C > T (p.Arg349Trp). Ten patients with LMNA 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.

Cite

CITATION STYLE

APA

Magno, S., Ceccarini, G., Pelosini, C., Ferrari, F., Prodam, F., Gilio, D., … Santini, F. (2020). Atypical progeroid syndrome and partial lipodystrophy due to LMNA gene p.R349W mutation. Journal of the Endocrine Society, 4(10). https://doi.org/10.1210/jendso/bvaa108

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Save time finding and organizing research with Mendeley

Sign up for free