Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia

Table 1 Clinical and biochemical features of atypical lipodystrophy patients with CAV1 mutations

Attribute	Patient A	Patient B	Patient C
Ancestry	Northern Europe	Northern Europe	Northern Europe
CAV1 mutation name	I134fsdelA-X137	I134fsdelA-X137	-88delC
age at assessment (years)	28	55	35
sex	female	male	male
lipodystrophy onset	birth	birth	adulthood
BMI (kg/m²)	25.0	24.5	25.6
waist circumference (cm)	86	88	92
Subcutaneous fat changes:
face	decrease	decrease	increase
arms	decrease	decrease	decrease
gluteal region	increase	increase	decrease
thighs	increase	increase	decrease
calves	increase	increase	decrease
visceral	increase	increase	increase
age of diabetes onset (years)	none	30	33
hypertension and age of onset	none	none	33
hyperlipoproteinemia	type 5	type 4	type 5
pancreatitis	recurrent	no	recurrent
highest historical plasma triglyceride	20.4 mmol/L	80 mmol/L	16.5 mmol/L
acanthosis nigricans	present	absent	present
congenital cataracts	bilateral	bilateral	absent
atypical retinitis pigmentosa	bilateral	bilateral	absent
tinnitus	moderate	absent	absent
nystagmus	severe	absent	absent
spastic ataxia	severe	mild	absent
dysdiadochokinesia	severe	mild	absent
muscle power in lower limbs	diminished (4/5)	normal	normal
sensory glove/stocking neuropathy	severe	mild	absent
Babinski sign	bilateral	absent	absent
finger past-pointing	severe	absent	absent
other comments	wheel-chair bound since age 20; similarly affected paternal aunt (deceased)	Patient A's father; legally blind	requires 120 U of insulin daily

ISSN: 1476-511X