Table 4 Overall identified mutations causing Perrault syndrome

HSD17B4 (NM_000414.3)

c.46G>A

p.Gly16Ser

[12]

c.244G>T

p.Val82Phe

[12]

c.298G>T

p.Ala100Ser

[11]

c.587C>T

p.Ala196Val

[10]

c.650A>G

p.Tyr217Cys

[4]

c.1704T>A

p.Tyr568*

[4]

12-kb deletion (exons 10–13)

[10]

HARS2 (NM_012208.3)

c.598C>G

p.Leu200Val

[5]

c.1010A>G

p.Tyr337Cys

[14]

c.1102G>T

p.Val368Leu

[5]

CLPP (NM_006012.2)

c.21delA

p.Ala10Profs*117

[16]

c.270+4A>G

[7]

c.425C>T

p.Pro142Leu

[16]

c.430T>C

p.Cys144Arg

[12]

c.433A>C

p.Thr145Pro

[7]

c.439T>A

p.Cys147Ser

[14]

c.440G>C

p.Cys147Ser

[7]

c.484G>A

p.Gly162Ser

[16]

c.624C>G

p.Ile208Met

[17]

c.685T>G

p.Tyr229Asp

[15]

Deletion of several exons

[16]

LARS2 (NM_015340.3)

c.351G>C

p.Met117Ile

[12]

c.880G>A

p.Glu294Lys

[20]

c.899C>T

p.Thr300Met

[18]

c.1077delT

p.Ile360Phefs*15

[6]

c.1358G>A

p.Arg453Gln

[14]

c.1556C>T

p.Thr519Met

[20]

c.1565C>A

p.Thr522Asn

[6, 12, 19]

c.1886C>T

p.Thr629Met

[6, 14]

c.1912G>A

p.Glu638Lys

[18]

TWNK (NM_021830.4)

c.85C>T

p.Arg29*

This work

c.793C>T

p.Arg265Cys

[14]

c.968G>A

p.Arg323Gln

[12]

c.1172G>A

p.Arg391His

[8]

c.1196A>G

p.Asn399Ser

[12, 13]

c.1321T>G

p.Trp441Gly

[8]

c.1519G>A

p.Val507Ile

[8]

c.1754A>G

p.Asn585Ser

[8]

c.1802G>A

p.Arg601Gln

[13]

c.1886C>T

p.Ser629Phe

This work

ERAL1 (NM_005702.3)

c.707A>T

p.Asn236Ile

[9]