Author/Editor		Leban, Tina; Trebušak Podkrajšek, Katarina; Kovač, Jernej; Fidler, Aleš; Pavlič, Alenka
Title		An intron c.103-3T>C variant of the AMELX gene causes combined hypomineralized and hypoplastic type of amelogenesis imperfecta
Type		članek
Vol. and No.		Letnik 13, št. 7
Publication year		2022
Volume		str. 1-18
ISSN		2073-4425 - Genes
Language		eng
Abstract		Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the AMELX gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar clinical and radiographic findings. All three probands were carefully selected from 40 patients with AI. In probands from both families, scanning electron microscopy confirmed hypoplastic and hypomineralised enamel. A neonatal line separated prenatally and postnatally formed enamel of distinctly different mineralisation qualities. In both families, whole exome analysis revealed the intron variant NM_182680.1: c.103-3T>C, located three nucleotides before exon 4 of the AMELX gene. In family II, an additional variant, c.2363G>A, was found in exon 5 of the FAM83H gene. This report illustrates a variant in the AMELX gene that was not previously reported to be causative for AI as well as an additional variant in the FAM83H gene with probably limited clinical significance.
Keywords		zobna sklenina nepopolna amelogeneza analiza eksomov dental enamel amelogenesis imperfecta exome analysis