Punctate palmoplantar keratoderma type 1 with a novel <i>AAGAB</i> frameshift mutation: intrafamilial phenotype variation due to ageing

Kono, Michihiro; Fukai, Kazuyoshi; Shimizu, Nami; Nagao, Jun; Takeichi, Takuya; Tsuruta, Daisuke; Sugiura, Kazumitsu; Akiyama, Masashi

doi:10.1111/jdv.13906

Cited by 6 publications

(8 citation statements)

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“…Since the identification of AAGAB mutations as a cause for PPPK1 in 2012, over 50 loss of function mutations have been described in affected families of different geographic and ethnic backgrounds. 1 -5 It is evident that AAGAB mutations do not account for all PPPK1 cases and mutations in at least one other gene are responsible for PPPK1. Gue et al reported a mutation in collagen, type XIV, α1 ( COL14A1 ) as the cause for PPPK1 in a large Chinese family.…”

Section: Discussionmentioning

confidence: 99%

“…1 -3 PPPK1 is characterized by multiple and irregularly distributed hyperkeratotic papules on the palms and soles that may be larger or confluent in areas of pressure (Figure 1). 3 -5 PPPK1 exhibits intra- and inter-familial variable expressivity and an increase in lesion number and size with advancing age and exaggeration on exposure to water. 1 -3,5 This increase has been attributed to additive mechanical and environmental stress on the palms and soles rather than aging factors.…”

Section: Introductionmentioning

confidence: 99%

“…To date, ~50 AAGAB mutations have been reported in PPPK1 families from different populations including European, Asian, and African families. 3,4,9 -15 Except for a single Canadian family included in a study reported by Furniss et al, AAGAB mutations have not been assessed in Canadian PPPK1 families. 13 In this study we describe AAGAB mutations and the incidence of cancer in 18 unrelated Canadian families with PPPK1.…”

Section: Introductionmentioning

confidence: 99%

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AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

et al. 2019

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Background: Punctate palmoplantar keratoderma type 1 (PPPK1) presents in late childhood to adulthood with multiple small discrete hyperkeratotic papules on palms and soles. PPPK1 is an autosomal dominant skin disease caused by AAGAB mutations. It has been suggested that PPPK1 may be associated with an increased predisposition to systemic malignancies. Objectives: To evaluate the presence of AAGAB mutations in Canadian families with PPPK1 and the possible increased predisposition to systemic malignancies. Methods: Eighteen unrelated Canadian families with PPPK1 were recruited for this study. Genomic DNA was extracted from saliva and PCR amplification was performed for all AAGAB exons and exon/intron junctions. PCR products were sequenced and analyzed for mutations. A family history of malignancy was obtained from the index case and, when possible, from other family members. Results: We have identified 5 heterozygous AAGAB loss of function mutations in 11 families. The mutation c.370 C>T, p.Arg124* was the most prevalent and was identified in 6 families. A splice site mutation, c.451+3delAAGT, was identified in 2 families. The other mutations c.473delG, p.Gly158Glufs*0; c.550-551insAAT, p.Gly183*; and c.505-506 dupAA, p.Asn169Lysfs*6 were each identified in 1 family. Different cancers were reported in 11 families (Table 1 and Supplemental Figure S1). Conclusions: AAGAB mutations were found in 11 of 18 families with PPPK1. In some families there appears to be an association with cancer.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

et al. 2019

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“…To the best of our knowledge, 51 AAGAB mutations have been reported in affected families of different geographic and racial backgrounds (Figure 3a). [1][2][3][4][5][6][7][8][9][10][11][12][13][14] Most of the reported mutations were nonsense mutations or frameshift mutations. Six mutations affected the start codon.…”

Section: Discussionmentioning

confidence: 99%

“…1,2 To date, a total of 51 distinct AAGAB mutations have been identified in PPPK1 families from different geographic and racial backgrounds. [1][2][3][4][5][6][7][8][9][10][11][12][13][14] However, genotype-phenotype correlations have not been defined in PPPK1. 4,5 Herein, we report four Japanese patients with PPPK1 from two families with an identical novel heterozygous AAGAB mutation.…”

Section: Introductionmentioning

confidence: 99%

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations

Hasegawa

Shimomura

Hirashima

et al. 2021

The Journal of Dermatology

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Punctate palmoplantar keratoderma type 1 (PPPK1) is a rare autosomal dominant disorder characterized by hyperkeratotic papules on the palms and soles. In 2012, heterozygous loss-of-function mutations in the AAGAB gene were identified as the cause of this disorder. To date, 51 AAGAB mutations have been reported in families with PPPK1, but clear genotype-phenotype correlations have not been established yet. In this report, we identified four Japanese patients with PPPK1 from two families with an identical novel heterozygous AAGAB mutation. All patients showed hyperkeratotic papules only on the soles. Direct sequencing analysis of the AAGAB gene using peripheral blood-derived genomic DNA samples revealed that all of the patients carried a heterozygous 1-bp substitution (c.844G>A, p.Glu282Lys) in exon 9, leading to a missense change. Since all patients with the same missense mutation showed a mild phenotype limited to the soles, there is thought to be a genotype-phenotype correlation regarding this mutation. The c.844G>A mutation is a known single-nucleotide polymorphism with a minor allele frequency of 0.000012. Because of its mild symptoms, individuals with this mutation can be misdiagnosed with clavus or verruca vulgaris; this suggests that there may be a high incidence of mild symptoms of skin lesions found only on the soles in patients with PPPK1. Therefore, it is necessary to consider this disease when keratotic papules are found on the soles.

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La génétique des kératodermies palmoplantaires isolées

Sperelakis-Beedham

Lopez

Girodon

et al. 2022

Annales de Dermatologie et de Vénéréologie - FMC

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Punctate palmoplantar keratoderma type 1 with a novel AAGAB frameshift mutation: intrafamilial phenotype variation due to ageing

Cited by 6 publications

References 6 publications

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

Only plantar lesion of punctate palmoplantar keratoderma with a novel missense mutation in the AAGAB gene: Two Japanese familial case reports and review of reported mutations

La génétique des kératodermies palmoplantaires isolées

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