表 1.

导致AI的RELT基因突变位点及临床表现

Description of the mutations in RELT causing AI according to location and clinical features

Location	cDNAa	Clinical features	References
a, the locations of mutation sites refer to the sequence of RELT gene (NM_032871.3); b, the proband also carries the mutation of COL17A1 (c.4156+2dup). AI, amelogenesis imperfecta; dup, duplicate; del, delete.
Intron 3	c.120+1G>A	Hypomineralized and rough enamel, with attrition of occlusal surfaces	[16]
Intron 3	c.120+1G>T	Hypomineralized yellow-brown enamel, with attrition of occlusal surfaces and localized pitted hypoplastic enamel	[16]
Intron 3	c.121-2A>G	Rough hypoplastic enamel, attrition of occlusal surfaces with ring of thin enamel covering lateral surfaces of the crown	[17]
Exon 4	c.164C>T	Hypomineralized, normal enamel thickness, post-eruptive loss	[24]
Exon 4 Exon11	c.193T>C c.1260_1263dup	Rough and hypomineralized enamel with pits localized in the middle of crown	[16]
Exon 4 Exon 6	c.260A>T c.521T>G	Severe enamel hypoplasia affecting both primary molars and permanent teeth, loss of normal crown morphology	[25]b
Exon 10	c.1169_1170del	Rough and hypomineralized enamel, attrition of occlusal surfaces	This study and[17]
Exon 11	c.1264C>T	Rough enamel, normal enamel thickness	[24]
Exon 11	c.1265G>C	Severe generalized enamel attrition	[17]