OMIA 002177-9615 : Amelogenesis imperfecta, ACP4-related in Canis lupus familiaris

Possibly relevant human trait(s) and/or gene(s) (MIM number): 617297

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

Molecular basis: Hytönen et al. (2019) reported a likely causal variant of this disorder in Akita and American Akita: "A 1-bp insertion in ACP4 [=ACPT] (c.1189dupG) is predicted to lead to a frameshift, p.(Ala397Glyfs), resulting in an abnormal C-terminal part of the protein, and hypoplastic AI [amelogenesis imperfecta]".

Prevalence: Hytönen et al. (2019) : "To evaluate the segregation pattern, we genotyped the variant by Sanger sequencing in a cohort of 159 Akitas including 6 affected dogs and 153 control samples from our biobank. All affected dogs were homozygous for the variant. Among the control population, we found two dogs, littermates, that were homozygous for the variant and the rest were either heterozygous (n = 36) or homozygous (n = 115) for the wild-type allele (Fig. 4). We also screened the variant in a cohort containing samples from 78 dogs from three-related breeds, including American Akitas (n = 197), Alaskan Malamutes (n = 36), Kai (n = 9) and Hokkaido (n = 3). The screening revealed one homozygote and 44 heterozygotes in American Akitas and no variants in other breeds. The two Akitas and one American Akita that were homozygous for the variant were confirmed to be affected by AI. The carrier frequency was calculated to be 22% in both Akitas and American Akitas. In summary, the ACP4 variant fully segregated with AI in the studied breeds."

Breeds: Akita, American Akita.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
ACPT acid phosphatase, testicular Canis lupus familiaris 1 NC_006583.3 (106056137..106051901) ACPT Homologene, Ensembl, NCBI gene

Variants

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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Akita American Akita Amelogenesis imperfecta, ACP4-related ACPT insertion, small (<=20) CanFam3.1 1 c.1189dupG p.Ala397Glyfs 2019 30877375

Reference


2019 Hytönen, M.K., Arumilli, M., Sarkiala, E., Nieminen, P., Lohi, H. :
Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants. Hum Genet :, 2019. Pubmed reference: 30877375. DOI: 10.1007/s00439-019-01997-8.

Edit History


  • Created by Frank Nicholas on 20 Mar 2019
  • Changed by Frank Nicholas on 21 Mar 2019