Identification of a novel mutation in the ATP2C1 gene in a Chinese pedigree with Hailey-Hailey disease / 中国医学科学院学报

<p><b>OBJECTIVE</b>To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.</p><p><b>METHOD</b>All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.</p><p><b>RESULTS</b>We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.</p><p><b>CONCLUSION</b>The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.</p>