Patient ID | Sex | Age (years) | Mode | Clinical features | Gene | Transcript | c. | p. | Inheritance | Reference | Figure |
---|---|---|---|---|---|---|---|---|---|---|---|
Pathogenic variants | |||||||||||
Isolated AI | |||||||||||
V1.14 | M | 25 | ? | Hypoplastic, hypomineralised | WDR72 | NM_182758.3 | c.[182A>G];[815G>A] | p.[H61R];[W272*] | Compound heterozygous | Novel | S1 |
V2.05 | M | 6 | AR | N/A | CNNM4 | NM_020184.3 | c.[1495G>A];[1495G>A] | p.[V499M];[V499M] | Homozygous (C) | Novel | S2 |
V2.08 | M | 12 | AR | Hypomineralised | SLC24A4 | NM_153646.3 | c.[(1537+1_1538-1)_(*67_?)del]; [(1537+1_1538-1)_(*67_?)del] | p.[0?];[0?] | Homozygous (C) | 72 | S3 |
V2.09 | F | 16 | AD | Hypoplastic | COL17A1 | NM_000494.3 | c.[2407G>T]; [=] | p.[G803*];[=] | Maternal | 73 | S4 |
V2.18 | M | 13 | ? | Hypoplastic | LAMB3 | NM_000228.2 | c.[124C>T]; [=] | p.[R42*];[=] | ? | 74 | S5 |
V2.20 | F | 18 | ? | Hypomature | FAM83H | NM_198488.3 | c.[1289C>A];[=] | p.[S430*];[=] | ? | 75 | S6 |
V2.26 | M | 13 | AD | Hypomineralised | FAM83H | NM_198488.3 | c.[1282C>T];[=] | p.[Q428*];[=] | Paternal | Novel | S7 |
V2.28 | M | 14 | ? | Hypoplastic | AMELX | NM_182680.1 | c.[155C>T];[=] | p.[P52L];[=] | De novo | Novel | S8 |
V2.29 | M | 14 | AD | N/A | ENAM | NM_031889.2 | c.[123+1G>A];[=] | p.[0?];[=] | Paternal | Novel | S9 |
V2.48 | F | 20 | AD | Hypoplastic | COL17A1 | NM_000494.3 | c.[1646G>A];[=] | p.[W549*];[=] | Maternal | Novel | S10 |
V2.53 | F | 19 | ? | Hypoplastic | AMBN | NM_016519.5 | c.[532-1G>C];[532-1G>C] | p.[0?];[(0?)] | Homozygous | Novel | S11 |
V2.63 | M | 10 | ? | N/A | FAM83H | NM_198488.3 | c.[2029C>T];[=] | p.[Q677*];[=] | ? | 76 | S12 |
V2.79 | M | 10 | ? | Hypoplastic, hypomature | COL17A1 | NM_000494.3 | c.[1873C>T];[=] | p.[R625*];[=] | ? | Novel | S13 |
V2.82 | F | 14 | AD | Hypoplastic | COL17A; LAMA3 | NM_000494.3; NM_198129.1 | COL17A1:c.[1141+1G>A]; LAMA3:c.[6477_6486del] | COL17A1:p.[0?]; LAMA3:p.[I2159Mfs*46] | Maternal and ? | Novel | 2 |
Syndromic AI | |||||||||||
V2.06 | F | 14 | ? | Enamel Renal Syndrome | FAM20A | NM_017565.3 | c.[1106_1107del]; [c.1006_1107del] | p.[E2316Gfs*10]; [E2316Gfs*10] | Homozygous | Novel | S14 |
Isolated STHAG | |||||||||||
V1.11 | M | 21 | ? | Ag 12, 13, 14, 15, 18, 22, 23, 24, 25, 28, 31, 34, 35, 38, 44, 45, 48 | WNT10A | NM_025216.2 | c.[383G>A];[=] | p.[R128Q];[=] | Maternal | 77 | S15 |
V1.15 | F | 11 | ? | Ag 12, 15, 17, 22, 25, 27, 28, 31, 35, 37, 38, 41, 44, 45, 47, 48 | WNT10A | NM_025216.2 | c.[343A>C](;)[682T>A] | p.[K115Q](;)[F228I] | ? | Novel and 78 | S16 |
V2.55 | F | 15 | ? | 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, 48 | WNT10A | NM_025216.2 | c.[321C>A];[321C>A] | p.[C107*];[C107*] | Homozygous | 78 | S17 |
V2.65 | F | 17 | ? | Ag 12, 13, 15, 17, 18, 22, 23, 25, 27, 28, 31, 32, 35, 37, 38, 41, 42, 45, 48 | WNT10A | NM_025216.2 | c.[682T>A];[682T>A] | p.[F228I];[F228I] | Homozygous | 78 | S18 |
V2.66 | M | 37 | ? | Ag 12, 13, 18, 22, 28, 31, 32, 37, 38, 41, 42, 47, 48 | WNT10A | NM_025216.2 | c.[682T>A];[682T>A] | p.[F228I];[F228I] | Homozygous | 78 | S19 |
V2.67 | M | 11 | AD | Ag 15, 16, 17, 18, 25, 26, 27, 28, 36, 37, 38, 45, 46, 47, 48 | PAX9 | NM_006194.3 | c.[(?_-115)_(*62_?)del];[=] | p.[0?];[=] | Paternal | 78 | S20 |
V2.69 | M | 18 | ? | Ag 13, 14, 18, 22, 23, 24, 28, 31, 41, 45 | WNT10A | NM_025216.2 | c.[637G>A];[=] | p.[G213S];[=] | ? | 79 | S21 |
V2.71 | M | 11 | ? | Ag 12, 13, 15, 17, 18, 22, 23, 25, 27, 28, 31, 32, 33, 34, 35, 37, 38, 41, 42, 43, 44, 45, 47, 48 | WNT10A | NM_025216.2 | c.[682T>A];[321C>A] | p.[F228I];[C107*] | Compound heterozygous | 78 | S22 |
V2.72 | M | 33 | ? | Ag 17, 18, 22, 28, 31, 32, 37, 38, 41, 42, 47, 48 | WNT10A | NM_025216.2 | c.[682T>A ](;)[321C>A] | p.[F228I](;)[C107*] | ? | 78 | S23 |
V2.74 | M | 26 | ? | Ag 13, 15, 18, 23, 24, 25, 28, 31, 33, 34, 35, 37, 38, 41, 42, 43, 44, 45, 47, 48 | WNT10A | NM_025216.2 | c.[682T>A];[682T>A] | p.[F228I];[F228I] | Homozygous | 78 | S24 |
V2.76 | M | 15 | ? | Ag 12, 14, 15, 18, 22, 24, 25, 28, 31, 34, 35, 37, 38, 41, 42, 43, 44, 45, 47, 48 | WNT10A | NM_025216.2 | c.[682T>A];[682T>A] | p.[F228I];[F228I] | Homozygous | 78 | S25 |
V2.78 | F | 9 | ? | Ag 12, 14, 22, 31, 32, 35, 41 | EDA | NM_001399.4 | c.[467G>A];[=] | p.[R156H];[=] | De novo | 17 | S26 |
V2.91 | F | 12 | AD | Ag 14, 15, 24, 25 35, 36, 45, 46 | MSX1 | NM_002448.3 | c.[249del];[=] | p.[E84Rfs*76];[=] | Paternal | Novel | S27 |
V2.92 | M | 9 | ? | Ag 12, 17, 22, 23, 24, 25, 27, 35, 37, 33, 31, 41, 43, 45, 47 | WNT10A | NM_025216.2 | c.[682T>A];[=] | p.[F228I];[=] | Maternal | 78 | S28 |
V2.93 | M | 28 | ? | Ag 14, 15, 18, 25, 27, 28, 32, 34, 35, 37, 38, 44, 45, 47, 48 | WNT10A | NM_025216.2 | c.[682T>A];[682T>A] | p.[F228I];[F228I] | Homozygous | 78 | S29 |
Syndromic STHAG | |||||||||||
V2.54 | F | 49 | ? | ED | WNT10A | NM_025216.2 | c.[682T>A];[c.416C>T] | p.[F228I];[p.A139V] | Compound heterozygous | 78 and novel | S30 |
V2.87 | F | 3 | ? | Intellectual disability | CTNNB1 | NM_001904.3 | c.[998dup];[=] | p.[Tyr333*];[=] | ? | Novel | S31 |
Isolated DGI/DD | |||||||||||
V1.09 | F | 10 | AD | DD* | DSPP | NM_014208.3 | c.[3480del];[=] | p.[S1160Rfs*154];[=] | ? | Novel | S32 |
V1.10 | M | 9 | AD | DGI* | DSPP | NM_014208.3 | c.[3480del];[=] | p.[S1160Rfs*154];[=] | Maternal | Novel | S32 |
V2.36 | M | 45 | AD | DGI | DSPP | NM_014208.3 | c.[3533_3534insTA];[=] | p.[N1179Tfs*136];[=] | ? | Novel | S33 |
V2.55 | F | 12 | AD | DGI | DSPP | NM_014208.3 | c.[52G>T];[=] | p.[V18F];[=] | Maternal | 80 | S34 |
V2.57 | F | 44 | AD | DGI | DSPP | NM_014208.3 | c.[3480del];[=] | p.[S1160Rfs*154];[=] | ? | Novel | S35 |
V2.59 | F | 41 | ? | DGI | DSPP | NM_014208.3 | c.[3682_3686del];[=] | p.[S1228*];[=] | ? | Novel | S36 |
Syndromic DGI | |||||||||||
V2.58 | M | 47 | AD | Osteogenesis imperfecta | COL1A1 | NM_000088.3 | c.[3837_3840del];[=] | p.[N1279Lfs*51];[=] | Paternal | Novel | S37 |
Otodental syndrome | |||||||||||
V2.03 | M | 13 | AD | FGF3 | NM_005247.2 | c.[(?_-3)_(220+1_221-1)del];[=] | p.[0?];[=] | Paternal | Novel | S38 |
*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.