2019
DOI: 10.1177/1203475419878161
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AAGAB Mutations in 18 Canadian Families With Punctate Palmoplantar Keratoderma and a Possible Link to Cancer

Abstract: 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. Metho… Show more

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Cited by 9 publications
(16 citation statements)
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References 22 publications
(51 reference statements)
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“…The fact that no visible product with the c.73+2dup change could be detected might be explained by efficient non‐sense‐mediated decay of the deficient mRNA product. The exact normal function of AAGAB and how its mutations cause punctate PPK is not entirely known but it is involved in membrane trafficking, endocytosis and protein sorting 14 . All our patients' phenotypes matched the previously reported variable PPK punctate type 1A phenotypes 26 .…”
Section: Discussionsupporting
confidence: 81%
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“…The fact that no visible product with the c.73+2dup change could be detected might be explained by efficient non‐sense‐mediated decay of the deficient mRNA product. The exact normal function of AAGAB and how its mutations cause punctate PPK is not entirely known but it is involved in membrane trafficking, endocytosis and protein sorting 14 . All our patients' phenotypes matched the previously reported variable PPK punctate type 1A phenotypes 26 .…”
Section: Discussionsupporting
confidence: 81%
“…The majority of patients with AAGAB mutations (77%, 7/9) had affected relatives and onset of symptoms by age 20 (66%, 6/9) and all by the age of 41 years. The most common AAGAB mutation was c.370C>T p.(Arg124*) found in three unrelated patients 13,14 . The other mutations have not previously been associated with punctate PPK: c.(?_‐84_(73+1_74‐1)del leading to deletion of exon 1, c.73+2dup p.(?)…”
Section: Resultsmentioning
confidence: 99%
“…Recently, an association between PPPK1 and familial cancers, including squamous cell carcinoma, has been reported. 7 It is predicted that increased expression of EGFR in PPPK1 leads to the development of cancer.…”
Section: Discussionmentioning
confidence: 99%
“…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%
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