Amelogenesis imperfecta

Gene: ITGB6

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Patients with biallelic mutations in ITGB6 have either hypomineralised pitted enamel or hypoplastic enamel with a rough surface. More recently, a consanguineous family with a homozygous ITGB6 mutation with adolescent alopecia, intellectual disability and dentogingival abnormalities with rough, discoloured enamel was reported. However, it is unclear if these additional phenotypes result from the ITGB6 variant or are co-segregating, for example, due to an undetected copy number variant. The ITGB6 missense mutations identified so far lie within the β1 domain of the protein involved in binding to α integrin subunits, activity-modifying cations and ligands. Another patient has been reported with a homozygous ITGB6 nonsense mutation, but phenotyping of the enamel was complicated by the co-presence of a hemizygous Nance-Horan syndrome (congenital cataracts and dental anomalies) mutation (MIM *300457). See ITGB6 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/ITGB6

Created: 3 Aug 2017, 2:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IH 616221

Publications

• PMID: 24305999
• 25431241
• 24319098
• 26695873

Comment when marking as ready: Marked as ready: August 16th 2017.

Created: 16 Aug 2017, 2:36 p.m.

Comment on list classification: Updated rating from Red to Green: Green expert review and on the Leeds diagnostic panel for AI. Plus 3 unrelated cases (a Hispanic girl, a Hispanic boy and 2 siblings in a Pakistani family) reported in OMIM and LOVD.

Created: 16 Aug 2017, 2:35 p.m.

Comment on mode of inheritance: Biallelic MOI supported by OMIM.

Created: 8 Jun 2017, 10:06 a.m.