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lthough obstructive sleep apnea has many attributes of a complex genetic trait, 1 few genetic mutations have been identified in patients with the condition. Obesity has been shown to be associated with obstructive sleep apnea in the general population, 2 but few rare genetic syndromes affecting total body adipose content or distribu- tion have been evaluated for possible association with ob- structive sleep apnea. Familial partial lipodystrophy sub- type 2 most often results from mutations in LMNA, the gene encoding nuclear lamin A/C (MIM 151660). Patients with familial partial lipodystrophy subtype 2 are healthy at birth, but around puberty they lose fat stores selectively in the extremities and gluteal region, while visceral, facial and neck fat stores are preserved and may enlarge with caloric excess. 3 Familial partial lipodystrophy subtype 2 has been called "fat neck" syndrome in the past. 3 Using poly- somnography, we have documented the presence of ob- structive sleep apnea in 2 women with familial partial lipodystrophy subtype 2 who each presented with daytime somnolence. Patient 1 was a 49-year-old woman of normal weight in whom familial partial lipodystrophy subtype 2 had been di- agnosed at age 30 years. She was 161 cm tall, her weight was 72.5 kg, and she had a body mass index of 27.9 kg/m 2 , a waist circumference of 88 cm and blood pressure of 145/88 mm Hg. Patient 2 was a 46-year-old woman of nor- mal weight in whom the lipodystrophy had been diagnosed 1 year earlier. Her height was 155 cm, weight 59.9 kg, body mass index 25.9 kg/m 2 , waist circumference 86 cm and

Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation