ORPHA: 201; DO: 0081002;
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 14q32.33 | Cowden syndrome 6 | 615109 | Autosomal dominant | 3 | AKT1 | 164730 |
A number sign (#) is used with this entry because of evidence that Cowden syndrome-6 (CWS6) is caused by heterozygous mutation in the AKT1 gene (164730) on chromosome 14q32.
For a general phenotypic description and a discussion of genetic heterogeneity of Cowden syndrome, see CWS1 (158350).
The transmission pattern of CWS6 in patients reported by Orloff et al. (2013) was consistent with autosomal dominant inheritance.
Orloff et al. (2013) found that of 91 individuals with Cowden syndrome without germline PTEN (601728), SDHB (185470), or SDHD (602690) mutation or KLLN (612105) promoter hypermethylation, 2 individuals (2.2%) carried 1 of 2 germline heterozygous missense mutations in the AKT1 gene (164730.0002-164730.0003). The patients were 38 and 47 years of age.
Orloff, M. S., He, X., Peterson, C., Chen, F., Chen, J.-L., Mester, J. L., Eng, C. Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am. J. Hum. Genet. 92: 76-80, 2013. [PubMed: 23246288] [Full Text: https://doi.org/10.1016/j.ajhg.2012.10.021]