Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients

Table 2 Distribution of PEX1 5' polymorphisms in relation to the common c.2097_2098insT mutation

No. of patients (this study)	No. of patients [19]	c.-137T > C polymorphism	c.-53C > G polymorphism	c.2097_2098insT genotype
13	8	TT	CC	-
3	0	TC (↓)	CC	-
5	1	TC (↓)	GC (↑)	-
6	15	TC (↓)	GC (↑)	het
2	1	CC (↓↓)	GG (↑↑)	hom

Het and hom refer to the heterozygous and homozygous presence of the c.2097_2098insT genotype, respectively. Our study identified a new genetic constellation, that is the potentially expression reducing 137T > C transition in the absence of the c.-53C > G transversion (marked in bold). The arrows refer to the expected effect on PEX1 expression [19].

ISSN: 1471-2350