Skip to main content

Table 1 Overview of the PGL and SDH genes

From: Familial paragangliomas

PGL gene

encoded Protein

chromosomal location

characteristics

PGL1

SDHD

11q23

maternal imprinting

PGL4

SDHB

1p35-36

autosomal dominant inheritance

PGL3

SDHC

1q21

autosomal dominant inheritance

PGL2

-

11q13

maternal imprinting*

 

SDHA

5p15

opticus atrophy, myopathy, ataxia, Leigh syndrome, recessive no paragangliomas

  1. * The PGL2 gene has not yet been identified.