Table 2.

Relationships between Genotype, Clinical Phenotype, Biochemical Parameters, and the PEX1 Protein Level, in Fibroblasts from Patients of CG1

	Mutation (cDNA Level, Protein Level)
Disease Categoryand Patient	I	II	Age at Deathor at Present	PEX1 Protein Level(% of control)	VLCFAC26:C22 Ratioa	DHAPAT Activityb(nmol/2h × mg protein)
Nonclassical ZS:
2	c.2528G→A, G843D	c.2528G→A, G843D	2 years, 9 mo	∼3	.45	.5
22	c.2528G→A, G843D	c.2528G→A, G843D	9 years	<10	.30	2.1
26c	c.2528G→A, G843D	c.2528G→A, G843D	8 years, alive	∼15	.18	.2
27c	c.2528G→A, G843D	c.2528G→A, G843D	27 years, alive	∼10	.12	2.4
31c	c.2528G→A, G843D	c.2528G→A, G843D	45 years, alive	∼7	.49	1.4
10c	c.2528G→A, G843D	c.2097-2098insT, P740X	41 years, alive	∼5	.29	1.2
13c	c.2528G→A, G843D	c.2097-2098insT, P740X	5.5 years, alive	<5	.39	.6
20	c.2528G→A, G843D	c.2097-2098insT, P740X	9 years	5–10	.27	1.9
28	c.2528G→A, G843D	c.2097-2098insT, P740X	2.5 years	5–10	.70	1.5
30c	c.2528G→A, G843D	c.2097-2098insT, P740X	21 years, alive	<5	.18	1.4
7d	c.2528G→A, G843D	3850T→C, X1284Q	Unknown, >2 years	∼3	.28	nde
9c	c.1777G→A, G593R	c.2071+1G→T	6 years, alive	∼7	.12	4.3
Mean ± SD					.31±.16	1.59±1.07
Classical ZS:
1	c.2528G→A, G843D	c.2846G→A, R949Q	3 mo	∼50	.34	2.0
17	c.2097-2098insT, P740X	c.2097-2098insT, P740X	2 mo	0	.52	.5
19	c.2097-2098insT, P740X	c.2097-2098insT, P740X	Unknown	0	.32	1.1
23	c.2097-2098insT, P740X	c.2097-2098insT, P740X	1 year	0	.60	.5
6	c.788-789delCA, T268X	c.2097-2098insT, P740X	3 mo	0	.73	.5
16	c.2926+2T→C	c.2097-2098insT, P740X	Unknown	0	.33	.5
11	c.2730delA, V960X	c.2730delA, V960X	3 mo	0	.31	.1
12	c.2730delA, V960X	c.2730delA, V960X	3 mo	0	.48	.1
14	c.1670+5G→T	c.1670+5G-T	18 mo	0	.61	.1
5	c.434-448delf	c.2008C→A, L670M	1 day	0	.59	.4
Mean ± SD					.48±.14	.58±.55

^aControl values: mean = .04; range = .03–.07.

^bControl value: 8.5 ± 2.0 nmol/2h × mg protein.

^cPatient's phenotype is IRD.

^dPatient's phenotype is NALD.

^end = not determined.

^fPatient has c.434-448del and insertion of GCAA.