Identification and characterization of a case of mild familial partial lipodystrophy in a carrier of a LMNA p.Arg582Leu variant

Abstract

w buttocks and limbs and muscular pseudohypertrophy which is usually accompanied by accumulation in the face, neck and abdominal viscera, and is frequently associated with metabolic and cardiovascular complications. The reported prevalence is 1 case per 100,000 inhabitants in Europe, but it is likely largely underestimated. We herein report the case of a female patient who was occasionally found to harbor a mutation compatible with FPLD2. Materials and methodsThe patient, aged 38 years, was referred to the Unit of Clinical Nutrition, Obesity and Metabolic Diseases of the University Hospital Policlinico "P. Giaccone" in 2022 by the geneticist of the Unit of Chromatography and Mass Spectrometry Section, Quality Control and Chemical Risk (CQRC), Villa Sofia-Cervello Hospital, Palermo, Italy, following a clinical exome procedure that revealed the presence of a mutation in the LMNA gene, defined as a missense variant in exon 11 c.1745G>T and consisting of the amino acid change p.Arg582Leu. Additionally, the parents and her 3-year-old daughter underwent genetic investigations (Fig. 1) after providing written informed consent. Our index case had a sister who denied her consent for genetic analysis and was available only for anamnestic information and physical examination.Different measurements were performed. Briefly, anthropometric measurements included height, body weight, body mass index [BMI; body weight (kg)/height 2 (m 2 )], body composition in terms of fat mass (FM) and fat-free mass, which were estimated via dual-energy X-ray absorptiometry (DEXA; Hologic Serie Discovery; Bedford, MA, USA); the latter also permitted measurement of segmental (legs, arms, trunk) body composition. Abdominal visceral and Anna Maria Barile and Cristiana Randazzo contributed equally.