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

BMC Medical Genetics

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

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

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

ISSN: 1471-2350