Patent ID: 6994961

Claim:
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: TAJ TAJ Structural Mutant Genetic Lesion Translation Product Defect hTm106 C deletion at 384 Scr to Stop at 107 Truncation at residue 106 hTm134 T to A at 459 Cys to Stop at 135 Truncation at residue 134 hTm174 C deletion at 589 Cys to Stop at 175 Truncation at residue 174 hTm191 T to A at 639 Tyr to Stop at 192 Truncation at residue 191 hTm212 C to A at 703 Tyr to Stop at 213 Truncation at residue 212 hTm219 T to A at 724 Cys to Stop at 220 Truncation at residue 219 hTm238 CC deletion at 762 Ala to Val at 233 Truncation at residue 238 hTm244 C to A at 799 Cys to Stop at 245 Truncation at residue 244 hTm268 T to A at 871 Cys to Stop at 269 Truncation at residue 268 hTm277 C to T at 896 Arg to Stop at 278 Truncation at residue 277 hTm279 A to T at 902 Arg to Stop at 280 Truncation at residue 279 hTm286 G to T at 923 Glu to Stop at 287 Truncation at residue 286 hTm293 G to T at 944 Gly to Stop at 294 Truncation at residue 293.