Mutation analysis of ATP2C1 gene in a Chinese family with Hailey-Hailey disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study a Chinese pedigree with Hailey-Hailey disease (HHD) and identify the ATP2C1 gene mutation in this family.</p><p><b>METHODS</b>All exons of the ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 80 unrelated population-matched controls.</p><p><b>RESULTS</b>We identified a nonsense mutation 163C to T, resulting in a premature termination codon in ATP2C1 gene. The mutation was not found in normal individuals of the family and controls.</p><p><b>CONCLUSION</b>The mutation can affect the result of transcription and translation of ATP2C1 gene, and it is firstly reported in the Chinese pedigree with HHD.</p>