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Table 1 Summary of mutation types identified in SON in association with ZTTK syndrome

From: Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities

Mutation typecDNAProtein (predicted)No. of caseReference
Frame-shift deletion
(20 cases)
c.268delp.Ser90Valfs*591[1]
c.1881_1882delap.Val629Alafs*561[1]
c.2365delp.Ser789Alafs*81[1]
c.3597_3598delp.Pro1200Argfs*171[1]
c.3852_3856delp.Met1284Ilefs*22[1, 4]
c.4055delp.Pro1352Glnfs*141[1]
c.4358_4359delp.Thr1453Serfs*111[1]
c.4640delp.His1547Leufs*761[1]
c.4678delp.Glu1560Lysfs*631[1]
c.5549_5550delp.Arg1850Ilefs*31[1]
c.5753_5756delap.Val1918Glufs*877[1, 3, 4]
c.6087delp.Ser2029Argfs*221[1]
c.6233delp.Pro2078Hisfs*41[4]
Frame-shift insertion
(2 cases)
c.[4999_5013del; 5031_5032insAA]bp.[Asp1667_Asn1671del;
Asp1678Lysfs*9]
1[1]
c.6002_6003insCCp.Arg2002Glnfs*51[1]
Frame-shift duplication
(2 cases)
c.3073dupp.Met1025Asnfs*61[4]
c.4549dupp.Glu1517Glyfs*61[1]
Nonsense substitution
(4 cases)
c.286C > Tp.Gln96*1[4]
c.394C > Tp.Gln132*1[5]
c.3334C > Tp.Arg1112*2[1, 2]
In-frame deletionc.4151_4174del24p.Leu1384_Val1391del1[1]
Missense substitutionc.[4909A > T; 5528C > A]cp.[Thr1637Ser; Ser1848Thr]1[4]
Whole gene deletion1[1]
  1. a These two types of mutation were examined in this study. b An in-frame deletion and a frame-shift insertion were identified in one allele; the latter was regarded as pathogenic. c Two substitutions were identified in one allele