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Table 1 Genes known to be involved in Perrault syndrome

From: Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Genetic type

MIM entry

Gene

Gene MIM entry

Location

PRLTS1

233400

HSD17B4

601860

5q23.1

PRLTS2

614926

HARS2

600783

5q31.3

PRLTS3

614129

CLPP

601119

19p13.3

PRLTS4

615300

LARS2

604544

3p21.31

PRLTS5

616138

TWNK

606075

10q24.31

PRLTS6

617565

ERAL1

607435

17q11.2