Four novel ATP2A2 mutations in Slovenian patients with Darier disease

Godić, Aleksandar; Korošec, Branka; Miljković, Jovan; Kansky, Aleksej; Glavač, Damjan

doi:10.1016/j.jaad.2009.07.031

Cited by 8 publications

(15 citation statements)

References 32 publications

(27 reference statements)

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“…We did not find mutations in 17 patients (24%) with DD and three patients (17%) with HHD, which is similar to figures reported in the literature [Sakuntabhai et al., ; Hu et al., ; Ikeda et al., ; Ringpfeil et al., ; Dobson‐Stone et al., ; Yokota et al., ; Ikeda et al., ; Li et al., ; Zhang et al., ; Hamada et al., ; Bchetnia et al., ; Cheng et al., ; Godic et al., ; Fu et al., ; Klausegger et al., ; Green et al., ; ]. Of interest though, one DD patient showed skipping of exon 4 of ATP2A2 on the mRNA level, which indicates that, for instance, larger deletions or cryptic splice‐site mutations may account for the disease phenotype.…”

Section: Diagnostic Relevancesupporting

confidence: 89%

“…(Asp702Asn) reported five times, and c.2249G>A/p. (Arg750Glu) reported four times [Jacobsen et al., ; Ruiz‐Perez et al., ; Sakuntabhai et al., , ; Mac Manus et al., ; Ringpfeil et al., ; Chao et al., ; Ikeda et al., ; Onozuka et al., ; Racz et al., ; Hamada et al., ; Bchetnia et al., ; Godic et al., ; Fu et al., ; Pedace et al., ; Green et al., ; Li et al., ; Shi et al., ; Dodiuk‐Gad et al., ]. At amino acid positions 131 and 495, other base substitutions c.392G>T/p.…”

Section: Variantsmentioning

confidence: 99%

“…It is interesting to note that the most prevalent recurrent mutations in ATP2A2 are base substitutions resulting in missense mutations: c. [Jacobsen et al, 1999;Ruiz-Perez et al, 1999;Sakuntabhai et al, 1999aSakuntabhai et al, , 1999bMac Manus et al, 2001;Ringpfeil et al, 2001;Chao et al, 2002;Ikeda et al, 2003;Onozuka et al, 2004;Racz et al, 2005;Hamada et al, 2007;Bchetnia et al, 2009b;Godic et al, 2010a;Fu et al, 2011;Pedace et al, 2011;Green et al, 2013;Li et al, 2014;Shi et al, 2015;Dodiuk-Gad et al, 2016]. At amino acid positions 131 and 495, other base substitutions c.392G>T/p.…”

Section: Reported Variants In Atp2a2mentioning

confidence: 99%

“…Even mild disease can severely affect quality of life [Dodiuk-Gad et al, 2013]. Prevalence is estimated at 1:30,000-55,000 for DD and 1:50,000 for HHD [Burge, 1992;Burge and Wilkinson, 1992;Tavadia, et al, 2002;Foggia and Hovnanian, 2004;Godic et al, 2010a]. Penetrance is complete, but expressivity is highly variable; the phenotype may vary between unrelated patients affected by the same variant as well as among family members harboring the same mutation [Ruiz-Perez et al, 1999;Ikeda et al, 2001;Wang et al, 2008].…”

Section: Introductionmentioning

confidence: 99%

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Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

et al. 2017

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The two disorders of cornification associated with mutations in genes coding for intracellular calcium pumps are Darier disease (DD) and Hailey-Hailey disease (HHD). DD is caused by mutations in the ATP2A2 gene, whereas the ATP2C1 gene is associated with HHD. Both are inherited as autosomal-dominant traits. DD is mainly defined by warty papules in seborrheic and flexural areas, whereas the major symptoms of HHD are vesicles and erosions in flexural skin. Both phenotypes are highly variable. In 12%-40% of DD patients and 12%-55% of HHD patients, no mutations in ATP2A2 or ATP2C1 are found. We provide a comprehensive review of clinical variability in DD and HHD and a review of all reported mutations in ATP2A2 and ATP2C1. Having the entire spectrum of ATP2A2 and ATP2C1 variants allows us to address the question of a genotype-phenotype correlation, which has not been settled unequivocally in DD and HHD. We created a database for all mutations in ATP2A2 and ATP2C1 using the Leiden Open Variation Database (LOVD v3.0), for variants reported in the literature and future inclusions. This data may be of use as a reference tool in further research on treatment of DD and HHD.

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Section: Diagnostic Relevancesupporting

confidence: 89%

Section: Variantsmentioning

confidence: 99%

Section: Reported Variants In Atp2a2mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease

et al. 2017

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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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