Amelogenesis imperfecta

Gene: ACP4

Comment when marking as ready: Marked as ready: 18th October 2017.

Created: 18 Oct 2017, 11:41 a.m.

Comment on list classification: Updated rating from Red to Green: Green expert review. No disease associated yet in DD-G2P but sufficient cases supporting causation from 2 different populations (Turkish and Pakistani) from recent papers (PMID:28513613 and 27843125).

Created: 16 Aug 2017, 2:07 p.m.

Smith et al., 2017 (PMID:28513613) identified 2 homozygous missense variants (T143M, P249L) in ACPT in 2 unrelated Pakistani families. The variants segregated with hypoplastic amelogenesis imperfecta in the families.

Created: 16 Aug 2017, 2:05 p.m.

Added 'missense' tag as all variants reported so far are missense variants (see PMID:28513613/PMID:27843125 and comment by Claire Smith).

Created: 16 Aug 2017, 2:02 p.m.

Comment on mode of inheritance: Biallelic MOI supported by OMIM and PMID:27843125.

Created: 16 Aug 2017, 1:58 p.m.

Seymen et al. (2016, PMID:27843125) studied 6 consanguineous, apparently unrelated Turkish families with generalized hypoplastic amelogenesis imperfecta (MIM:617297) and identified homozygous or compound heterozygous mutations in the ACPT gene that segregated with the disorder in the families. Most variants were present in the ExAC database at a low frequency.

Created: 16 Aug 2017, 1:57 p.m.

Green List (high evidence)

Mutations in ACPT, now known as ACP4, were recently identified in eight families with autosomal recessive hypoplastic AI. All seven variants identified are missense changes predicted to affect residues within the extracellular domain that makes up the majority (residues 29–390; NP_149059.1) of the 426 amino acid protein. See ACPT LOVD: http://dna2.leeds.ac.uk/LOVD/genes/ACPT

Created: 3 Aug 2017, 1:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IJ 617297

Publications

• PMID: 27843125
• 28513613

New approved HGNC gene symbol is ACP4

Created: 4 Jul 2017, 3:49 p.m.