Table 2.

PEX26 Mutations in CG8 Patients

Patient, Clinical Phenotype,and PEX26 Allele	PEX26 Mutation in cDNA	Comment
PBD059:
ZS:
T77fs139X homozygote	c.230+1G→T	This donor splice-site mutation results in the insertion of 173, 236, or 650 bp of intron 2, with the result of addition of a nonspecific sequence of 61 or 82 aa. For clarity, we designate the allele by the shortest insert.
PBD111:
NALD:
R98W homozygote	c.292C→Ta	Transition at CpG dinucleotide
PBD063:
IRD:
C86fs114X	c.254insT	Nonspecific sequence of 28 aa
R98W	c.292C→T
PBD055:
IRD:
[L153V+R288fs366X]	[c.457C→G+c.862delC]	Nonspecific sequence of 78 aa; L153V and R288fs366C are in cis.
P117L	c.305C→Ta
PBD057:
NALD:
R98W homozygote	c.292C→T
PBD110:
NALD:
L44P	c.131T→Ca
R98W	c.292C→T
PBD114:
IRD:
M1T	c.2T→Ca	Downstream initiation at M96 theoretically possible
L45P	c.134T→Ca
PBD109:
IRD:
R98W	c.292C→T
A143_V182dup+G183V	c.426_548dup122bpinsT	Duplication within exon 4 maintains frame and predicts mutant PEX26p with duplication of aa 143–182 plus G183V
PBD161:
IRD:
R98W homozygote	c.292C→T	Clinical phenotype variant
PBD065:
NALD:
R98W homozygote	c.292C→T

^aFrequencies of cDNA changes have been determined by ASO in 106 control chromosomes (see text).