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>

Genetical diagnosis in a family with X-linked hypohidrotic ectodermal dysplasia / 中国医学科学院学报

<p><b>OBJECTIVE</b>To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia</p><p><b>METHODS</b>Eight coding exons of ED1 gene of two patients with clinically confirmed X-linked hypohidrotic ectodermal dysplasia, their parents, and 100 unrelated population-matched control were amplified by polymerase chain reaction. The products were further analyzed by direct sequencing.</p><p><b>RESULTS</b>Two patients with X-linked hypohidrotic ectodermal dysplasia in this pedigree showed a point mutation at nucleotide 1 045 ( A > G) . Meanwhile, heterozygous double peaks of nucleotide G and A at the same position were found in their mother, but not in their father and 100 unrelated population-matched controls.</p><p><b>CONCLUSION</b>The c. 1 045A > G mutation of ED1 gene may be the pathologic cause of this Chinese family with X-linked hypohidrotic ectodermal dysplasia.</p>

Analysis of gene mutations in two patients with tuberous sclerosis complex / 中国医学科学院学报

<p><b>OBJECTIVE</b>To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex (TSC).</p><p><b>METHODS</b>All the coding exons of TSC1 and TSC2 genes of these two patients, unaffected member in the two families, and 100 unrelated population-matched controls were amplified by polymerase chain reaction. The products were analyzed by direct sequencing.</p><p><b>RESULT</b>Two TSC2 gene mutations (c. 268C > T, c. 5 227C > T) were identified in two patients, but not in their family members and in 100 unrelated population-matched controls.</p><p><b>CONCLUSION</b>These two mutations are the cause of the clinical phenotypes of these two sporadic patients with TSC.</p>