Alternative titles; symbols
HGNC Approved Gene Symbol: HYD2
DO: 0050591;
Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38) : 16:47,000,001-52,600,000
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
|---|---|---|---|---|
| 16q12.1 | Tooth agenesis, selective, 2 | 602639 | 2 |
For a phenotypic description and a discussion of genetic heterogeneity of selective tooth agenesis, see STHAG1 (106600).
Ahmad et al. (1998) described a consanguineous kindred in Pakistan segregating hypodontia associated with dental anomalies such as malformation, enamel hypoplasia, and failure of eruption, leading prematurely to the edentulous state.
The transmission pattern of hypodontia with other dental anomalies in the family reported by Ahmad et al. (1998) was consistent with autosomal recessive inheritance.
In studies of a consanguineous kindred in Pakistan segregating hypodontia with various dental anomalies, Ahmad et al. (1998) demonstrated linkage of the trait to a 10-cM region on 16q12.1; maximum 2-point lod score = 5.76 for marker D16S3140.
Ahmad, W., Brancolini, V., Faiyaz ul Haque, M., Lam, H., ul Haque, S., Haider, M., Maimon, A., Aita, V. M., Owen, J., Brown, D., Zegarelli, D. J., Ahmad, M., Ott, J., Christiano, A. M. A locus for autosomal recessive hypodontia with associated dental anomalies maps to chromosome 16q12.1. (Letter) Am. J. Hum. Genet. 62: 987-991, 1998. [PubMed: 9529357] [Full Text: https://doi.org/10.1086/301799]