Novel clinical and molecular findings in Chinese families with Hailey-Hailey disease

ATP2C1 gene codes for the secretory pathway Ca2+/Mn2+-ATPase pump type 1 (SPCA1) localizing at the golgi apparatus. Mutations on the human ATP2C1 gene, causing decreased levels of the SPCA1 expression, have been identified as the cause of the Hailey–Hailey disease, a rare skin disorder. In the last few years, several mutations have been described, and here we summarize how they are distributed along the gene and how missense mutations affect protein expression. SPCA1 is expressed in four different isoforms through alternative splicing of the ATP2C1 gene and none of these isoforms is differentially affected by any of these mutations. However, a better understanding of the tissue specific expression of the isoforms, their localization along the secretory pathway, their specific binding partners and the role of the C-terminal tail making isoforms different from each other, will be future goals of the research in this field.

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“…87 After careful check with the correct reading frame this was not a mutation but a polymorphism. 88 …”

Section: Figurementioning

confidence: 99%

ATP2C1 gene mutations in Hailey–Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking

et al. 2016

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“…I read with great interest the article by Luo et al . that reported three novel mutations in the ATP2C1 gene in Chinese families with Hailey–Hailey disease.…”

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confidence: 99%

“…that reported three novel mutations in the ATP2C1 gene in Chinese families with Hailey–Hailey disease. The described missense mutations, 853A>C, 2323T>C and 2048G>A, due to a single‐base substitution occurring in exons 8, 23 and 30, respectively, of the ATP2C1 gene, caused amino acid changes T221P, Y711H and R619K, respectively …”

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confidence: 99%

Correct reading frame helps to properly identifyATP2C1gene mutations vs. polymorphisms

Micaroni

2016

Clin Exp Dermatol

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“…We believe the difference in mutation positions described by us and Micaroni are due to different versions of the ATP2C1 mRNA sequence used. We used the ATP2C1 mRNA sequence registered as GenBank BC028139.1, which described the missense mutations as 853A>C and 2048G>A, whereas Micaroni used the sequence registered as GenBank AF181120.1, which identified them as 896A>C and 2091G>A, both of which are located 43 bp downstream of our original location. Both BC028139.1 and AF181120.1 are present in GenBank, therefore both mutation locations appear to be correct, according to the different versions of the ATP2C1 mRNA sequence.…”

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confidence: 99%

“…We thank Dr Micaroni for the comments and for pointing out our incorrect report of the missense mutation 2323T>C causing the amino acid change Y711H . We have corrected the missense mutation 2323T>C to the new polymorphism 2322T>C, using the GenBank ATP2C1 mRNA sequence BC028139.1 .…”

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confidence: 99%