Patent ID: 6994961
Filing Date: 2006-02-07
Classification: C12Q

Abstract:
1. A method for detecting the presence of or predisposition to an ectodermal disorder comprising the steps of: (a) detecting the presence of a human TAJ gene or gene product in a cell of a host predetermined to be at elevated risk of having or being predisposed to a particular ectodermal disorder; and (b) correlating the presence of the TAJ gene or gene product with a presence of or predisposition to the ectodermal disorder, wherein the TAJ gene or gene product is a variant correlated with the presence of or predisposition to the ectodermal disorder, wherein the ectodermal disorder is an ectodermal dysplasia syndrome and the syndrome is Clouston syndrome, and wherein the detecting step comprises detecting a TAJ gene encoding a truncated TAJ protein mutant of Table 1: