Clinical and biochemical attributes of atypical progeria subjects with mutant LMNA
| Cell line | Age, ethnicity, and sex | Diagnosis | Clinical features | LMNA mutation |
|---|---|---|---|---|
| AG00990 | 15 year old | Seip syndrome | hypertriglyceridemia | T10I heterozygote |
| white | hyperglycemia | |||
| male | thinned skin | |||
| lipoatrophy | ||||
| progeroid features | ||||
| AG04110 | 13 year old | Severe WRN or mild HGPS | short stature | E578V heterozygote |
| white | dysmorphic facies | |||
| female | thinned skin | |||
| clinodactyly | ||||
| beaked nose | ||||
| high-pitched voice | ||||
| scoliosis | ||||
| AG00989 | 20 year old | “Atypical progeria” | short stature | R644C heterozygote |
| white | generalised wasting | |||
| male | thinned skin | |||
| survival to relatively older age |