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Table 2 Previously reported amelogenesis imperfecta patients carrying pathogenic variants in SLC24A4

From: A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family

Sr. No.

Origin

Family Information

Dentition

Discoloration

Dental Caries

Attrition

Enamel

cDNA Change

Amino acid Change

Type of Mutation

HGMD Accession Number

Exon No.

Inheritance

References

1

Pakistan

Consanguineous, Two patients investigated

Permanent

Yellow-brown

X

X

Opaque, premature enamel loss

c.1015C > T

p.Arg339*

Nonsense

CM133029

11

Autosomal recessive

(25)

2

Pakistan

Consanguineous, One patient investigated

NA

Yellow-brown

X

X

Opaque, premature enamel loss

c.1495A > T

p.Ser499Cys

Missense

CM133030

14

Autosomal recessive

(25)

3

Turkey

Consanguineous, One patient investigated

Mixed

Milky Brown

Rough, pitted and soft

c.1317 T > G

p.Leu436Arg

Missense

CM150177

13

Autosomal recessive

(40)

4

Turkey

Consanguineous, One patient investigated

Primary

Yellow or Cream-colored

Normal thickness, soft and chipped

c.437C > T

p.Ala146Val

Missense

CM142719

5

Autosomal recessive

(36)

5

Turkey

Consanguineous, One patient investigated

Mixed

Brown

X

Abraded

Chromosomal deletion (Chr14: 92,957,680-92,967,722del)

Frameshift & PTC

Deletion

CG142874

15, 16 and 17

Autosomal recessive

(39)

6

Pakistan

Consanguineous, two patients investigated

Permanent

Yellow-brown, Creamy-colored

Thin

c.1192C > T

p.Gln398*

Nonsense

NA

12

Autosomal recessive

Present Study

  1. : the presence of phenotype X: the absence of phenotype NA: the information is not available in the literature