“Isolated” Amelogenesis Imperfecta Associated with DLX3 Mutation: A Clinical Case

Table 1

Targeted genes panel for enamel structure anomalies.

Protein	Gene (HGNC)	Localization	ENST
Amelogenin	AMELX	Xp22.31-22.1	ENST0000380712.7
Enamelin	ENAM	4q13.3	ENST00000396073.3
Ameloblastin	AMBN	4q21	ENST00000922937.10
Distal less homeobox 3	DLX3	17q21	ENST00000434704.2
Integrin, beta 6	ITGB6	2q24.2	ENST00000283249.6
laminin, beta 3	LAMB3	1q32	ENST00000356082.8
Amelotin	AMTN	4q13.3	ENST00000339336.8
WD repeat domain 72	WDR72	15q21.3	ENST00000360509.9
Matrix metallopeptidase 20	MMP20	11q22.3	ENST00000260228.2
Solute carrier family 24A4	SLC24A4	14q32.12	ENST00000532405.5
Kallikrein-related peptidase 4	KLK4	19q13.41	ENST00000324041.5
Bone morphogenetic phosphoprotein 2	BMP2	20p13	ENST00000378827.4
Odontogenesis-associated phosphoprotein	ODAPH	4q21.1	ENST00000311623.8
Collagen 17 alpha 1	COL17A1	10q24.3	ENST00000353479.9
Cyclin and CBS domain divalent metal cation transport mediator 4	CNNM4	2q11.2	ENST00000377075.2
Family with sequence similarity 83, member H	FAM83H	8q24.3	ENST00000388913.3
Laminin subunit alpha 3	LAMA3	18q11	ENST00000313654.13
Acid phosphatase 4	ACP4	19q13.33	ENST00000270593.1
G-protein-coupled receptor 68	GPR68	14q32	ENST00000531499.2