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. 2014 Jun 14;9:84. doi: 10.1186/1750-1172-9-84

Table 2.

List of all FAM20A mutations reported in the literature

Location cDNA Protein Mutation status Reference Patient Number of patients Sex
Exon 1
 c.34_35delCT
 p.Leu12Alafs*67
 Hom
 Cho et al.[19]
 Family 1
 1
 1 Female
Exon 1
 c.34_35delCT
 p.Leu12Alafs*67
 Hom
 Jaureguiberry et al.[17]
 Family 6
 1
 1 Male
Exon 1
 c.34_35delCT
 p.Leu12Alafs*67
 Het
 Jaureguiberry et al.[17]
 Family 16
 2
 2 Females
Exon 1
 c.174-175ins29
 p.Arg59Argfs*85
 Hom
 Cabral et al.[22]
 Family 1
 12
 10 Males; 2 Females
Exon 1
 c.217C > T
 p.Arg73*
 Het
 Jaureguiberry et al.[17]
 Family 11
 2
 1 Male; 1 Female
Exon 1
 c.349_367del19
 p.Leu117Cysfs*22
 Het
 Kantaputra et al.[21]
 Family 1
 1
 1 Male
Intron 1
 c.405-1G > C
  
 Het
 Wang et al.[23]
 Family 1
 1
 1 Female
Exon 2
 c.406C > T
 p.Arg136*
 Hom
 O’Sullivan et al.[20]
 Family 1
 4
 1 Female
Exon 2
 c.406C > T
 p.Arg136*
 Het
 Wang et al.[18]
 Family 3
 2
 2 Males
Exon 2
 c.406C > T
 p.Arg136*
 Hom
 Jaureguiberry et al.[17]
 Family 5
 1
 1 Female
Exon 2
 c.518 T > G
 p.Leu173Arg
 Hom
 Jaureguiberry et al.[17]
 Family 9
 1
 1 Male
Intron 2
 c.589 + 1G > A
  
 Het
 Jaureguiberry et al.[17]
 Family 2
 2
 1 Male; 1 Female
Intron 2
 c.590-2A > G
 p.Asp197_Ile214delinsVal
 Het
 Cho et al.[19]
 Family 4
 1
 1 Female
Exon 3
 c.612delC
 p.Leu205Cysfs*11
 Het
 Jaureguiberry et al.[17]
 Family 16
 2
 1 Female
Exon 4
 c.641_719del
 p.Ile214Asnfs*46
 Het
 Jaureguiberry et al.[17]
 Family 13
 2
 1 Male; 1 Female
Intron 4
 c.719 + 1G > C
  
 Het
 Jaureguiberry et al.[17]
 Family 3
 2
 1 Male; 1 Female
Intron 4
 c.720-2A > G
 p.Gln241_Arg271del
 Hom
 Wang et al.[18]
 Family 2
 1
 1 Male
Exon 5
 c.727C > T
 p.Arg243*
 Het
 Jaureguiberry et al.[17]
 Family 10
 1
 2 Female
Exon 5
 c.727C > T
 p.Arg243*
 Het
 Jaureguiberry et al.[17]
 Family 11
 2
 1 Male; 1 Female
Exon 5
 c.755_757delTCT
 p.Phe252del
 Het
 Jaureguiberry et al.[17]
 Family 13
 2
 1 Male; 1 Female
Intron 5
 c.812 + 2 T > G
  
 Hom
 Jaureguiberry et al.[17]
 Family 14
 1
 1 Female
Intron 5
 c.813-2A > G
 p.Arg271Serfx*70
 Hom
 Cho et al.[19]
 Family 2
 4
 3 Males; 1 Female
Exon 6
 c.826C > T
 p. Arg276*
 Het
 Cho et al.[19]
 Family 4
 1
 1 Female
Exon 6
 c.907_908delAG
 p.Ser303Cysfs*76
 Hom
 Jaureguiberry et al.[17]
 Family 15
 3
 2 Males; 1 Female
Exon 6
 c.913_914delTT
 p.Phe305Leufs*74
 Het
 Jaureguiberry et al.[17]
 Family 2
 2
 1 Male; 1 Female
Exon 6
 c.915_918delCTTT
 p.Phe305Leufs*76
 Hom
 Jaureguiberry et al.[17]
 Family 1
 1
 1 Male
Exon 6
 c.915_918delCTTT
 p.Phe305Leufs*76
 Het
 Kantaputra et al.[21]
 Family 1
 1
 1 Male
Exon 7
 c.992G > A
 p.Gly331Asp
 Hom
 Wang et al.[18]
 Family 1
 3
 1 Male 2 Females
Exon 8
 c.1175_1179delGGCTC
 p.Arg392Profs*22
 Hom
 Cho et al.[19]
 Family 3
 2
 2 Males
Exon 8
 c.1207G > A
 p.Asp403Asn
 Het
 Wang et al.[23]
 Family 1
 1
 1 Female
Exon 9
 c.1228_1229delGA
 p.Asp410Profs*5
 Het
 Jaureguiberry et al.[17]
 Family 10
 1
 1 Female
Intron 9
 c.1302-2A > G
  
 Het
 Kantaputra et al.[21]
 Family 2
 1
 1 Female
Exon10
 c.1348_1349delTC
 p.Ser450Profs*20
 Het
 Jaureguiberry et al.[17]
 Family 3
 2
 1 Male; 1 Female
Intron 10
 c.1361 + 4del
  
 Hom
 Wang et al.[23]
 Family 2
 2
 1 Male; 1 Female
Exon 11
 c.1369A > T
 p.Lys457*
 Hom
 Jaureguiberry et al.[17]
 Family 12
 1
 1 Female
Exon 11
 c.1432C > T
 p.Arg478*
 Hom
 Jaureguiberry et al.[17]
 Family 8
 1
 1 Male
Exon 11
 c.1432C > T
 p.Arg478*
 Het
 Wang et al.[18]
 Family 3
 2
 1 Male; 1 Female
Exon 11
 c.1480delC
 p.His494fs*13
 Het
 Kantaputra et al.[21]
 Family 2
 1
 1 Female
Exon 11
 c.1475_1482dupAACCCCAC
 p.Leu495Asnfs*15
 Hom
 Jaureguiberry et al.[17]
 Family 4
 2
 1 Male; 1 Female
Exon 11
 c.1513delA
 p.Ile505Serfs*2
 Hom
 Jaureguiberry et al.[17]
 Family 7
 2
 1 Male; 1 Female
Total reported 40 (33 unique mutations) 18 Hom; 22 Het   29 Families 60 index cases 32 Males; 28 Females

Hom: homozygous; Het: heterozygous; *premature stop codon.