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Table 4 Overall identified mutations causing Perrault syndrome

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

Gene (accession number) Mutation References
DNA level Protein level
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]