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

Darier’s disease (DD, MIM 124200) is an autosomal dominant inherited skin disease. Mutations in the ATP2A2 gene, which encoded the sarcoplasmic/endoplasmic reticulum Ca2+‐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.

[1]  D. Glavač,et al.  Four novel ATP2A2 mutations in Slovenian patients with Darier disease. , 2010, Journal of the American Academy of Dermatology.

[2]  Yingying Dong,et al.  Two novel mutations in the ATP2A2 gene in Chinese patients with Darier disease. , 2009, EJD. European journal of dermatology.

[3]  S. Abdelhak,et al.  New mutations of Darier disease in Tunisian patients , 2009, Archives of Dermatological Research.

[4]  C. Quan,et al.  Two novel frame‐shift mutations of ATP2A2 gene in Chinese patients with Darier's disease , 2008, Journal of the European Academy of Dermatology and Venereology : JEADV.

[5]  Wen-Bin Li,et al.  Novel mutations of the ATP2A2 gene in two families with Darier’s disease , 2008, Archives of Dermatological Research.

[6]  Hiroshi Suzuki,et al.  Comprehensive Analysis of Expression and Function of 51 Sarco(endo)plasmic Reticulum Ca2+-ATPase Mutants Associated with Darier Disease* , 2006, Journal of Biological Chemistry.

[7]  Liangdan Sun,et al.  Five mutations of ATP2A2 gene in Chinese patients with Darier’s disease and a literature review of 86 cases reported in China , 2006, Archives of Dermatological Research.

[8]  M. Csikós,et al.  Three novel mutations in the ATP2A2 gene in Hungarian families with Darier's disease, including a novel splice site generating intronic nucleotide change. , 2005, Journal of dermatological science.

[9]  A. Hovnanian,et al.  Calcium pump disorders of the skin , 2004, American journal of medical genetics. Part C, Seminars in medical genetics.

[10]  L. Goldsmith,et al.  Mutations in ATP2A2 in patients with Darier's disease. , 2003, Journal of Investigative Dermatology.

[11]  T. Strachan,et al.  ATP2A2 mutations in Darier's disease: variant cutaneous phenotypes are associated with missense mutations, but neuropsychiatric features are independent of mutation class. , 1999, Human molecular genetics.

[12]  A. Hovnanian,et al.  Spectrum of novel ATP2A2 mutations in patients with Darier's disease. , 1999, Human molecular genetics.

[13]  N. Craddock,et al.  Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease , 1999, Nature Genetics.

[14]  C. Munro.  The phenotype of Darier's disease: penetrance and expressivity in adults and children , 1992, The British journal of dermatology.

[15]  J. Wilkinson,et al.  Darier-White disease: a review of the clinical features in 163 patients. , 1992, Journal of the American Academy of Dermatology.