Osteopetrosis with gingival hamartomas
- Phene ID
- 3654
- Name
- Osteopetrosis with gingival hamartomas
- Phene Name
- N/A
- OMIA ID
- 1887
- Species ID
- 9913
- Characterised
- Yes
- Characterised Year
- 2014
| Variant ID | Phenotype | Gene ID | Deleterious | Chromosome | Genomic | Transcript | Protein |
|---|---|---|---|---|---|---|---|
| 210 | Osteopetrosis with gingival hamartomas | 388268993 | 1 | 25 | g.[1139611G>T; 1139613A>G] | c.[2248T>C;2250C>A] | p.(Y750Q) |
| Breed | Breed ID | Species ID | VBO Term |
|---|---|---|---|
| Belgian Blue (Cattle) | 49 | 9913 | http://purl.obolibrary.org/obo/VBO_0000139 |
Sartelet et al. (2014) reported data consistent with autosomal recessive inheritance.
Comparison of whole-genome sequence by Sartelet et al. (2014), from four affecteds and eight control Belgian Blue non-carriers, revealed three SNVs "[c2244G>C + c2248T>C + c2250C>A] located in exon 23 of the CLCN7 gene encoding the anion transport protein ClC-7". The first of these is synonymous, but the second and third jointly cause "a tyrosine to glutamine substitution (TAC>CAA: Y750Q)" in a highly conserved region of the protein. Subsequent genotyping for the two Y750Q missense mutations in "63 cases, 74 of their parents, 141 animals from 11 breeds other than BBCB, and 6,489 healthy BBCB animals" confirmed the causality of these mutations: "All cases were homozygous for the Y750Q mutation, while available parents and putative founder (Gabin) were all carriers. The mutation was absent in the non-BBCB cohort, and detected at a frequency of 5% (644 carriers) in BBCB controls. None of the genotyped controls was homozygous for the mutant (p=0.000026 under Hardy Weinberg equilibrium)."