Table 2 Review and data summary of PFE cases reported in the literature

Jelani et al. 2016 [14]

4

Female 12 y

Female 16 y

Female 19 y

Female 21 y

N/A

Family affected

N/A

Hypodontia

N/A

N/A

c.611 T > A

N/A

N/A

Pilz et al. 2014 [17]

23

Female: 14

Male: 9

Posterior teeth

5 patients with affected family members

10 patients with affected primary teeth

N/A

bilateral: 20

unilateral: 3

Typ I: 4

Typ II: 6

Typ III: 13

463G > T

1016G > A

356C > T

1050-3C > G

813dupT

436C > T

1093delG

331G > T

543 + 1G > A

Arg213X

N/A

N/A

Roth et al. 2014 [18]

70

N/A

N/A

N/A

N/A

N/A

N/A

N/A

c.75 + 9C > T

c.310C > T

c.322delT

c.331G > T

c.356C > T

c.434A > G

c.436C > A

c.436C > T

c.439C > T

c.543 + 1G > T

c.590 T > A

c.636dupT

c.639-2A > C

c.639-2A > G

c.695 T > G

c.698G > A

c.813dupT

c.875 T > C

c.1016G > A

c.1036delC

c.1093delG

c.1142 T > G

c.1148G > A

c.1182C > T

c.1305G > A

c.1324C > G

c.1355G > A

c.1389 T > C

c.1636G > A

c.1736A > C

N/A

N/A

Frazier-Bowers et al. 2014 [9]

54

6–68 y

N/A

7 isolated cases, 47 cases family affected

N/A

N/A

N/A

Typ I in 2 families, Typ II in 8 families

c.996_997insC

c.572delA

N/A

N/A

Risom et al. 2013 [20]

12

Female: 58 y

Female: 29 y

Female: 23 y

Female: 28 y

Female: 17 y

Female: 57 y

Female: 22 y

Male: 58 y

Male: 20 y

Male: 27 y

Male: 46 y

Male: 15 y

Molar, premolar

Molar, premolar

Molar, premolar

Molar, premolar

Molar, premolar

Molar, premolar

Molar, premolar

Molar, premolar

Molar

Molar

Molar

Molar, premolar

All cases family affected

N/A

N/A

Both

Both

Both

Both

Both

Both

Both

Both

Both

Both

Both

Both

N/A

c.356C > T

c.395C > T

c.439C > T

c.463G > T

c.543 + 1G > A

c.544-26_544-23del

c.892 T > G

c.947C > A

c.989G > T

c.1050-3C > G

c.1082G > A

c.1148G > A

c.1348_1350del

c.1354-1G > A

N/A

N/A

Rhoads et al. 2013 [19]

58

Gender: unknown

Age: 24/58 available: 6–18 y

Molar affected: 20

Molar and premolar affected: 38

N/A

Primary teeth affected reported in 12 cases

Alterations in root morphology: 11

Hypodontia: 4

Delayed eruption: 6

Impacted teeth: 10

Transposition of teeth: 2

Unilateral: 27

Bilateral: 31

Typ I: 29

Typ II: 19

Typ III: 10

11 cases with genetic analysis

1092delG as new mutation identified

Class III: 18 cases

N/A

Stellzig-Eisenhauer et al. 2010 [22]

13

N/A

Molars affected: 2

Molars and premolars affected: 11

All cases family affected

One case reported

N/A

Unilateral: 5

Bilateral: 8

N/A

c.1050-3C > G

c.543 + 1G > A

c.436G > T

N/A

N/A

Yamaguchi et al. 2011 [21]

5

Female 36 y

Female 9 y

Male 17 y

Male 22 y

Male 19 y

Molar

Molar, Premolar

N/A

N/A

N/A

All cases family affected

One case primary teeth affected

No further anomalies

1 case both sides,

4 cases one sight affected

N/A

R383Q

P119L

P132L

R147C

N/A

2 cases without therapy, 2 cases unsuccesful orthodontic treatment, one case segmental osteotomie

Frazier-Bowers et al. 2010 [25]

4

2 Male, 2 Female

N/A

Family affected

N/A

N/A

unilateral left: 1

unilateral right: 1

bilateral: 2

2 cases Typ I, 2 cases Typ II

c.1353-1G > A

2 cases Class III, 1 case Class I,1 case N/A

1 case: orthodontic extrusion of non affected teeth, 3 cases N/A

Decker et al 2008 [8]

13

N/A

Molars affected: 2

Molars and premolars affected: 11

Family affected

N/A

N/A

Unilateral right side: 1

Bilateral: 12

N/A

c.1050-3C > G

c.543 + 1G > A

c.463G > T

N/A

N/A

Sharma et al. 2016 [6]

15

Age: 6–55 years

Gender: N/A

Molars affected: 5

Molars and premolars affected: 10

N/A

3 cases

hypercementosis, hyperdontia, curved root formations, delayed root development

bilateral: 7

unilateral: 8

N/A

N/A

III: 7

II: 5

N/A: 3

surgical removed (5), unsucesfull orthodontic alignment (4), no treatment (3), overdentures (1), orthodontic alignment of upper +lower labial segments (1), N/A (1)

Jain et al. 2015 [15]

1

Male 15 y

Molar and premolar affected

N/A

N/A

N/A

both

Typ III

N/A

N/A

N/A

Aruna et al. 2014 [16]

1

Male 18 y

Molar

Not affected

None

Hyperdontia

13: MFE

right

Typ II

N/A

N/A

N/A

Cohen-Lévy 2011 [23]

1

Male, 10

Molars

Family affected

Affected

No further anomalies

Left side

N/A

N/A

Class I

Extraction

Mc Cafferty et al. 2010 [24]

1

Female 8 y

Molars

Family not affected

Affected

One tooth peg-shaped

Right side

Typ II

N/A

N/A

Extraction

Proff et al. 2006 [26]

1

Gender: N/A

10y

Molars

Family affected

Primary teeth affected

One teeth with MFE

Bilateral

Typ I

N/A

N/A

N/A

Frazier-Bowers 2007 [3]

38

N/A

N/A

All cases family affected

Primary teeth affected: 8 cases

2 cases with Hyperdontia

N/A

Typ I: 17 cases

Typ II: 11 cases

Typ III: 10 cases

N/A

N/A

N/A