A previously unreported frameshift <i><scp>ATP</scp>2C1</i> mutation in a generalized Hailey–Hailey disease

Leducq, Sophie; Duchatelet, Sabine; Zaragoza, J.; Ventéjou, Sarah; Muret, A. De; Eymieux, Sébastien; Blanchard, Emmanuelle; Machet, L.; Hovnanian, Alain; Kervarrec, Thibault

doi:10.1111/jdv.16038

Cited by 5 publications

(7 citation statements)

References 9 publications

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“…A total of 857 amino acids in the downstream region, consisting of 90.3 % (857/949) of total amino acids, are lost. Therefore, the obviously truncated protein may lose function, which explains the early age of onset in our patient (average onset age: 30-40 years) [2,5]. This hypothesis is consistent with the result by Kono et al, who reported a case with only 15 % downstream loss of protein and extremely advanced age of onset [3].…”

supporting

confidence: 92%

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Condylomata acuminata in a case of Hailey‐Hailey disease with a novel mutation

Zhang

et al. 2020

J Deutsche Derma Gesell

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supporting

confidence: 92%

“…Furong Li 1,2,3 , Yuexin Zhang 1,2,3 , Qianxi Li 1,2,3 , Hang Li 1,2,3 , Xuejun Zhu 1,2,3 , Mingyue Wang 1,2,3…”

Section: Conflict Of Interestunclassified

Condylomata acuminata in a case of Hailey‐Hailey disease with a novel mutation

Zhang

et al. 2020

J Deutsche Derma Gesell

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“…2 Generalized HHD (GHHD), a rare phenotype presenting with generalized involvement of HHD, has been reported. 3 GHHD is speculated to be induced by triggers such as bacterial infection or negligence of classical HHD or to appear without triggers. 3 Here, we report a novel deletion mutation in a patient with GHHD.…”

Section: A Novel Deletion Mutation In the Atp2c1 Gene In A Case Of Gementioning

confidence: 99%

“…3 GHHD is speculated to be induced by triggers such as bacterial infection or negligence of classical HHD or to appear without triggers. 3 Here, we report a novel deletion mutation in a patient with GHHD.…”

Section: A Novel Deletion Mutation In the Atp2c1 Gene In A Case Of Gementioning

confidence: 99%

A novel deletion mutation in the ATP2C1 gene in a case of generalized Hailey‐Hailey disease possibly aggravated by scabies infection

Ikeda

Kaga

Koide

et al. 2021

The Journal of Dermatology

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According to our search, similar mutations to c.1508delC have been reported in a Taiwanese patient (c.1508-1511delCTCA; previously described as 1459delCTCA) 5 and in a Chinese Han patient (c.1506-1509delTACT). 1 The termination codon was expected to be at the same position in three cases, including our case, although a 1 bp deletion in our case and a 4 bp deletion in the other two cases were detected. Unfortunately, clinical severity was not described in the two previously published cases.

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“…Hailey–Hailey disease (HHD), also called familial benign chronic pemphigus (OMIM: 169600), is an uncommon autosomal dominant genodermatosis with complete penetrance. The estimated prevalence and incidence of this disease are 1:40,000 and 1:50,000, respectively (Burge, 1992; Deng & Xiao, 2017; Leducq et al, 2020; Szigeti & Kellermayer, 2006). HHD usually occurs after puberty in the second or third decade of life, with a subsequently fluctuating course.…”

Section: Introductionmentioning

confidence: 99%

Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review

Yang

Zhang

et al. 2020

Molec Gen & Gen Med

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Background Hailey–Hailey disease (HHD; OMIM: 169600) is an autosomal dominate genodermatosis, characterized by recurrent blisters and erosions clinically and remarkable acantholysis pathologically. The underlying pathogenic factor is the mutation of ATP2C1 gene (OMIM: 604384), which encodes secretory pathway Ca2+/Mn2+‐ATPase (SPCA1). Skin folds are the predilection site of HHD. Atypical cases with a generalized pattern have rarely been reported, making it prone to misdiagnosis. Methods In this study, we presented three Chinese pedigrees of Hailey–Hailey disease with generalized skin lesions. ATP2C1 mutations were screened by DNA sequencing and their transcripts were further confirmed by minigene assay. We also performed a literature review of previously published generalized HHD over past two decades together with our cases. Results Three splice‐site mutations were identified: c.2487+1G>A, c.2126+1G>A, and c.1891‐2A>G, which resulted in an exon 25‐truncated transcript, two exon 22‐truncated transcripts, and two exon 21‐truncated transcripts, respectively. The c.2487+1G>A and the c.1891‐2A>G mutations are novel mutations which have not been reported before. No clustered mutations of ATP2C1 gene were found in generalized HHD patients in literature along with our novel mutations. Conclusion We found no hot spot mutations in ATP2C1 correlated with the generalized pattern of HHD. Our study expanded the spectrum of ATP2C1 mutations, which would be useful for disease diagnosis and genetic counseling.

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A previously unreported frameshift ATP2C1 mutation in a generalized Hailey–Hailey disease

Cited by 5 publications

References 9 publications

Condylomata acuminata in a case of Hailey‐Hailey disease with a novel mutation

Condylomata acuminata in a case of Hailey‐Hailey disease with a novel mutation

A novel deletion mutation in the ATP2C1 gene in a case of generalized Hailey‐Hailey disease possibly aggravated by scabies infection

Generalized Hailey–Hailey disease: Novel splice‐site mutations of ATP2C1 gene in Chinese population and a literature review

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