SACK1H and amelogenesis imperfecta: Amelogenesis imperfecta (AI): A patient with a seemingly isolated AI was recruited for the study and found to have a heterozygous VUS of FAM83H (NM_198488.5: c.1436G > A; p.Gly479Asp), a gene involved in autosomal dominant AI as well as a heterozygous 31.3 kb deletion in the ITGB6 gene, a gene involved in autosomal recessive AI.