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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.