# 615108

COWDEN SYNDROME 5; CWS5


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
3q26.32 Cowden syndrome 5 615108 3 PIK3CA 171834

TEXT

A number sign (#) is used with this entry because of evidence that Cowden syndrome-5 (CWS5) is caused by heterozygous mutation in the PIK3CA gene (171834) on chromosome 3q26.

For a general phenotypic description and a discussion of genetic heterogeneity of Cowden syndrome, see CWS1 (158350).


Molecular Genetics

Orloff et al. (2013) found that of 91 individuals with Cowden syndrome without germline PTEN (601728), SDHB (185470), or SDHD (602690) mutations, or KLLN (612105) promoter hypermethylation, 8 individuals (8.8%) carried 1 of 7 germline PIK3CA mutations. The mutations found in 3 male and 5 female patients consisted of 5 missense mutations (171834.0015-171834.0019), a complex missense/indel mutation (171834.0020), and a nonsense mutation (171834.0021). The patients ranged in age from 27 to 71 years of age.


REFERENCES

  1. 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, images, related citations] [Full Text]


Creation Date:
Ada Hamosh : 2/28/2013
carol : 03/14/2016
alopez : 3/15/2013
alopez : 3/1/2013

# 615108

COWDEN SYNDROME 5; CWS5


ORPHA: 201;   DO: 0081001;  


Phenotype-Gene Relationships

Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
3q26.32 Cowden syndrome 5 615108 3 PIK3CA 171834

TEXT

A number sign (#) is used with this entry because of evidence that Cowden syndrome-5 (CWS5) is caused by heterozygous mutation in the PIK3CA gene (171834) on chromosome 3q26.

For a general phenotypic description and a discussion of genetic heterogeneity of Cowden syndrome, see CWS1 (158350).


Molecular Genetics

Orloff et al. (2013) found that of 91 individuals with Cowden syndrome without germline PTEN (601728), SDHB (185470), or SDHD (602690) mutations, or KLLN (612105) promoter hypermethylation, 8 individuals (8.8%) carried 1 of 7 germline PIK3CA mutations. The mutations found in 3 male and 5 female patients consisted of 5 missense mutations (171834.0015-171834.0019), a complex missense/indel mutation (171834.0020), and a nonsense mutation (171834.0021). The patients ranged in age from 27 to 71 years of age.


REFERENCES

  1. 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]


Creation Date:
Ada Hamosh : 2/28/2013

Edit History:
carol : 03/14/2016
alopez : 3/15/2013
alopez : 3/1/2013