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 | Â | 29 Families | 60 index cases | 32 Males; 28 Females |