Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutations of EDA gene for a Chinese family affected with X-linked hypohidrotic ectodermal dysplasia (XLHED).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood of the proband, his relatives and 50 non-related healthy controls. Exonic sequences of the EDA gene were subjected to polymerase chain reaction amplification and direct sequencing.</p><p><b>RESULTS</b>A c.467G> A mutation (R156H) was detected in exon 3 of the EDA gene in the proband, his mother, 2 uncles, and 1 aunt. The same mutation was not detected in the 50 non-related healthy controls.</p><p><b>CONCLUSION</b>A c.467G>A mutation of the EDA gene probably underlies the disease in the family.</p>