Table 2

Pathogenic mutations identified in patients without a known mutation

Patient IDSexAge (years)ModeClinical featuresGeneTranscriptc.p.InheritanceReferenceFigure
Pathogenic variants
Isolated AI
 V1.14M25?Hypoplastic, hypomineralisedWDR72NM_182758.3c.[182A>G];[815G>A]p.[H61R];[W272*]Compound heterozygousNovelS1
 V2.05M6ARN/ACNNM4NM_020184.3c.[1495G>A];[1495G>A]p.[V499M];[V499M]Homozygous (C)NovelS2
 V2.08M12ARHypomineralisedSLC24A4NM_153646.3c.[(1537+1_1538-1)_(*67_?)del]; [(1537+1_1538-1)_(*67_?)del]p.[0?];[0?]Homozygous (C)72S3
 V2.09F16ADHypoplasticCOL17A1NM_000494.3c.[2407G>T]; [=]p.[G803*];[=]Maternal73S4
 V2.18M13?HypoplasticLAMB3NM_000228.2c.[124C>T]; [=]p.[R42*];[=]?74S5
 V2.20F18?HypomatureFAM83HNM_198488.3c.[1289C>A];[=]p.[S430*];[=]?75S6
 V2.26M13ADHypomineralisedFAM83HNM_198488.3c.[1282C>T];[=]p.[Q428*];[=]PaternalNovelS7
 V2.28M14?HypoplasticAMELXNM_182680.1c.[155C>T];[=]p.[P52L];[=]De novoNovelS8
 V2.29M14ADN/AENAMNM_031889.2c.[123+1G>A];[=]p.[0?];[=]PaternalNovelS9
 V2.48F20ADHypoplasticCOL17A1NM_000494.3c.[1646G>A];[=]p.[W549*];[=]MaternalNovelS10
 V2.53F19?HypoplasticAMBNNM_016519.5c.[532-1G>C];[532-1G>C]p.[0?];[(0?)]HomozygousNovelS11
 V2.63M10?N/AFAM83HNM_198488.3c.[2029C>T];[=]p.[Q677*];[=]?76S12
 V2.79M10?Hypoplastic, hypomatureCOL17A1NM_000494.3c.[1873C>T];[=]p.[R625*];[=]?NovelS13
 V2.82F14ADHypoplasticCOL17A; LAMA3NM_000494.3; NM_198129.1COL17A1:c.[1141+1G>A]; LAMA3:c.[6477_6486del]COL17A1:p.[0?]; LAMA3:p.[I2159Mfs*46]Maternal and ?Novel2
Syndromic AI
 V2.06F14?Enamel Renal SyndromeFAM20ANM_017565.3c.[1106_1107del]; [c.1006_1107del]p.[E2316Gfs*10]; [E2316Gfs*10]HomozygousNovelS14
Isolated STHAG
 V1.11M21?Ag 12, 13, 14, 15, 18, 22, 23, 24, 25, 28, 31, 34, 35, 38, 44, 45, 48WNT10ANM_025216.2c.[383G>A];[=]p.[R128Q];[=]Maternal77S15
 V1.15F11?Ag 12, 15, 17, 22, 25, 27, 28, 31, 35, 37, 38, 41, 44, 45, 47, 48WNT10ANM_025216.2c.[343A>C](;)[682T>A]p.[K115Q](;)[F228I]?Novel and 78S16
 V2.55F15?Ag 11, 12, 13, 14, 17, 18, 21, 22, 23, 24, 25, 27, 28, 31, 32, 33, 34, 37, 38, 41, 42, 43, 44, 45, 47, 48WNT10ANM_025216.2c.[321C>A];[321C>A]p.[C107*];[C107*]Homozygous78S17
 V2.65F17?Ag 12, 13, 15, 17, 18, 22, 23, 25, 27, 28, 31, 32, 35, 37, 38, 41, 42, 45, 48WNT10ANM_025216.2c.[682T>A];[682T>A]p.[F228I];[F228I]Homozygous78S18
 V2.66M37?Ag 12, 13, 18, 22, 28, 31, 32, 37, 38, 41, 42, 47, 48WNT10ANM_025216.2c.[682T>A];[682T>A]p.[F228I];[F228I]Homozygous78S19
 V2.67M11ADAg 15, 16, 17, 18, 25, 26, 27, 28, 36, 37, 38, 45, 46, 47, 48PAX9NM_006194.3c.[(?_-115)_(*62_?)del];[=]p.[0?];[=]Paternal78S20
 V2.69M18?Ag 13, 14, 18, 22, 23, 24, 28, 31, 41, 45WNT10ANM_025216.2c.[637G>A];[=]p.[G213S];[=]?79S21
 V2.71M11?Ag 12, 13, 15, 17, 18, 22, 23, 25, 27, 28, 31, 32, 33, 34, 35, 37, 38, 41, 42, 43, 44, 45, 47, 48WNT10ANM_025216.2c.[682T>A];[321C>A]p.[F228I];[C107*]Compound heterozygous78S22
 V2.72M33?Ag 17, 18, 22, 28, 31, 32, 37, 38, 41, 42, 47, 48WNT10ANM_025216.2c.[682T>A ](;)[321C>A]p.[F228I](;)[C107*]?78S23
 V2.74M26?Ag 13, 15, 18, 23, 24, 25, 28, 31, 33, 34, 35, 37, 38, 41, 42, 43, 44, 45, 47, 48WNT10ANM_025216.2c.[682T>A];[682T>A]p.[F228I];[F228I]Homozygous78S24
 V2.76M15?Ag 12, 14, 15, 18, 22, 24, 25, 28, 31, 34, 35, 37, 38, 41, 42, 43, 44, 45, 47, 48WNT10ANM_025216.2c.[682T>A];[682T>A]p.[F228I];[F228I]Homozygous78S25
 V2.78F9?Ag 12, 14, 22, 31, 32, 35, 41EDANM_001399.4c.[467G>A];[=]p.[R156H];[=]De novo17S26
 V2.91F12ADAg 14, 15, 24, 25 35, 36, 45, 46MSX1NM_002448.3c.[249del];[=]p.[E84Rfs*76];[=]PaternalNovelS27
 V2.92M9?Ag 12, 17, 22, 23, 24, 25, 27, 35, 37, 33, 31, 41, 43, 45, 47WNT10ANM_025216.2c.[682T>A];[=]p.[F228I];[=]Maternal78S28
 V2.93M28?Ag 14, 15, 18, 25, 27, 28, 32, 34, 35, 37, 38, 44, 45, 47, 48WNT10ANM_025216.2c.[682T>A];[682T>A]p.[F228I];[F228I]Homozygous78S29
Syndromic STHAG
 V2.54F49?EDWNT10ANM_025216.2c.[682T>A];[c.416C>T]p.[F228I];[p.A139V]Compound heterozygous78 and novelS30
 V2.87F3?Intellectual disabilityCTNNB1NM_001904.3c.[998dup];[=]p.[Tyr333*];[=]?NovelS31
Isolated DGI/DD
 V1.09F10ADDD*DSPPNM_014208.3c.[3480del];[=]p.[S1160Rfs*154];[=]?NovelS32
 V1.10M9ADDGI*DSPPNM_014208.3c.[3480del];[=]p.[S1160Rfs*154];[=]MaternalNovelS32
 V2.36M45ADDGIDSPPNM_014208.3c.[3533_3534insTA];[=]p.[N1179Tfs*136];[=]?NovelS33
 V2.55F12ADDGIDSPPNM_014208.3c.[52G>T];[=]p.[V18F];[=]Maternal80S34
 V2.57F44ADDGIDSPPNM_014208.3c.[3480del];[=]p.[S1160Rfs*154];[=]?NovelS35
 V2.59F41?DGIDSPPNM_014208.3c.[3682_3686del];[=]p.[S1228*];[=]?NovelS36
Syndromic DGI
 V2.58M47ADOsteogenesis imperfectaCOL1A1NM_000088.3c.[3837_3840del];[=]p.[N1279Lfs*51];[=]PaternalNovelS37
Otodental syndrome
 V2.03M13ADFGF3NM_005247.2c.[(?_-3)_(220+1_221-1)del];[=]p.[0?];[=]PaternalNovelS38
  • *Related individuals.

  • AD, autosomal dominant; AI, amelogenesis imperfecta; AR, autosomal recessive; C, consanguineous parents; DD, dentin dysplasia; DGI, dentinogenesis imperfecta; ED, ectodermal dysplasia; ID, intellectual disability; STHAG, selective tooth agenesis.