Table 1.
Characteristics of human dermal fibroblasts from PXE patients and healthy controls.
| Sample ID | Gender | Age 1 | Biopsy Source | ABCC6 Genotype 2 | Genotype Status | Phenodex Score 3 | |
|---|---|---|---|---|---|---|---|
| PXE Patients | |||||||
| P3M a | Male | 57 | Neck | c.3421C > T (p.Arg1141*) | c.3883_6G > A (SSM) | cht | S3, V2, C0 |
| P128M a | Male | 51 | Neck | c.3769_ 3370insC (p.Leu1259fs*18) | c.3769_3770insC (p.Leu1259fs*18) | hm | S2, E2, G0, C1 |
| P255F a | Female | 48 | Arm | c.3421C > T (p.Arg1141*) | c.2787 + 1C > T (SSM) | cht | S3, E2, G0, C0 |
| P265F a | Female | 62 | Neck | c.1132C > T (p.Gln378*fs) | c.3421C > T (p.Arg1141*) | cht | S3, E3, G0, V1, C1 |
| Healthy Controls | |||||||
|
M57A b
(AG13145) |
Male | 57 | Arm | - | - | wt | None |
|
M52A b
(AG11482) |
Male | 52 | Arm | - | - | wt | None |
|
F48A b
(AG14284) |
Female | 48 | Arm | - | - | wt | None |
|
F63A
b
(AG12786) |
Female | 63 | Arm | - | - | wt | None |
cht: compound heterozygous; hm: homozygous; wt: wild type; SSM: splice site mutation. a Fibroblasts isolated from skin biopsies. b Fibroblasts purchased from the Coriell Institute for Medical Research (Camden, NJ, USA). 1 Age in years. 2 Nucleotide numbering refers to the cDNA sequence with the A of the ATG translation initiation start site as nucleotide +1 (GenBank accession number NM_001171.2). 3 Adapted from the Phenodex score (an internationally standardized scoring system for the uniform evaluation of PXE cases) according to Legrand et al. [38]. S: skin; E: eye; G: gastrointestinal; V: vascular; C: cardiac.