Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease

Jia, Hao; Wang, Xiao Peng; Dong, Yingying; Wu, Jiawen; Li, Xiaoli; Liu, Yan; Xiao, Sengxiang

doi:10.1684/ejd.2009.0730

Cited by 5 publications

(5 citation statements)

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“…To date more than 187 pathogenic mutations have been described throughout the gene, including missense, nonsense, substitutions, insertions and deletions both frame‐shift and in‐frame (Miyauchi et al., for all references 2006 and earlier, and subsequent references). These mutations do not seem to cluster within “hot‐spot” regions throughout the primary sequence of the SERCA2b molecule and most are unique within individual families.…”

Section: Introductionmentioning

confidence: 99%

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Green

Gordon‐Smith

Burge

et al. 2013

The Journal of Dermatology

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Darier disease (DD) is a rare autosomal dominantly inherited skin disorder caused by mutations in ATP2A2, which is expressed in both the skin and the brain and encodes for SERCA2. We have screened the coding regions of ATP2A2 in a total of 95 unrelated individuals with DD to identify the pathogenic mutations. We identified 66 potentially pathogenic mutations in ATP2A2 for 74 of the 95 individuals with DD of which 45 (68%) are thought to be novel. Forty-nine (74%) are unique to an individual and 17 (26%) were found in more than one individual or overlap with previously identified variants. The results suggest that mutations in ATP2A2 may not be as family-specific as first thought. The spectrum of mutations identified will inform understanding of the pathogenesis of DD.

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Section: Introductionmentioning

confidence: 99%

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Green

Gordon‐Smith

Burge

et al. 2013

The Journal of Dermatology

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“…This mutation was previously described in European patients with DD 8 but was not found in reported Chinese patients with DD. None of the other ATP2A2 gene mutations (among the available mutation list that is up to 150) [2][3][4][5][6][7][8][9][10][11] were found in our patient with DD except for c.632G>A (p.G211D). The presence of this mutation was further screened in --II:1 Female 45 No --II:3 Female 41 Yes 5 ++++ II:5 Male 39 Yes 14 ++++ II:8 Female 34 Yes 17 +++ II:9 Female 34 No --II:11 Female 32 No --III:5 Female 17 Yes 15 ++ III:6 Female 16 No --III:7 Female 14 No --III:8 Female 12 Yes 9 +++ III:9 Male 10 Yes 8 + III:10 Male 9 Yes 9 + III:11 Male 5 Yes ?…”

Section: Resultsmentioning

confidence: 64%

Section: Resultsmentioning

confidence: 64%

“…There are at least 150 ATP2A2 mutations documented in patients with DD at present 2–11 . However, almost all identified mutations are family specific and are not observed in multiple families 12 .…”

Section: Introductionmentioning

confidence: 99%

“…2 There are at least 150 ATP2A2 mutations documented in patients with DD at present. [2][3][4][5][6][7][8][9][10][11] However, almost all identified mutations are family specific and are not observed in multiple families. 12 Additionally the relationship between genotype and DD phenotype has not been sufficiently established.…”

Section: Introductionmentioning

confidence: 99%

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Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype–phenotype correlation in a large Chinese family with Darier’s disease

Yin

et al. 2011

Int J Dermatology

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Darier's disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca(2+) -ATPase isoform 2 (SERCA2), are responsible for this skin disorder. Here we report the clinical, genetic, and molecular characterization of a large Chinese family with DD. We identified mutation c.632G>A (p.G211D) in the ATP2A2 gene in this family. Genotype-phenotype correlation in available family members provided helpful genetic counseling information for mutation carriers.

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Identification a novel missense mutation p.R761L in Chinese patients with Darier’s disease

Song

Yang

et al. 2010

Arch Dermatol Res

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Darier's disease (DD, MIM 124200) is an autosomal dominant inherited disease. It is usually present in teenagers or adults with multiple keratotic papules or plaques in seborrheic areas. Pathogenic mutations in the ATP2A2 gene have been identified. It encodes the sarcoplasmic or endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). Polymerase chain reaction and direct sequencing of the full coding sequence of ATP2A2 gene were performed to identify the mutation in this family. In this report, we identified a novel mutation of ATP2A2 gene in a Chinese family with DD. It is a novel heterozygous nucleotide G --> T transition at position 2,282 in exon 15 of the ATP2A2 gene. Our study expands the database on the ATP2A2 gene mutations in DD.

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Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease

Cited by 5 publications

References 0 publications

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Novel ATP2A2 mutations in a large sample of individuals with Darier disease

Identification of mutation c.632G>A (p.G211D) in the ATP2A2 gene and genotype–phenotype correlation in a large Chinese family with Darier’s disease

Identification a novel missense mutation p.R761L in Chinese patients with Darier’s disease

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