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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