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Table 2 List of all FAM20A mutations reported in the literature

From: Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

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

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