Reduction of palmoplantar keratoderma Buschke–Fischer–Brauer locus to only 0.967Mb

Mamaï, Ons; Boussofara, L.; Adala, Labiba; Amara, Abdelbasset; Charfeddine, Ilhem Ben; Ghariani, N.; Sriha, Badreddine; Denguezli, M.; Mili, Ali; Belazreg, T.; Saâd, Ali; Fischer, Judith; Gribaa, Moez

doi:10.1016/j.jdermsci.2012.06.011

Cited by 9 publications

(4 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently, four different studies reported refinements of the critical region on chromosome 15 (Figure 1). [12][13][14][15] Here, we describe the identification of pathogenic mutations in AAGAB, which encodes the alpha-and gamma-adaptin-binding protein p34. In addition, expression studies support the pathogenic role of AAGAB in the disease.…”

mentioning

confidence: 99%

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Giehl

Eckstein

Pasternack

et al. 2012

The American Journal of Human Genetics

100

View full text Add to dashboard Cite

Punctate palmoplantar keratodermas (PPKPs) are rare autosomal-dominant inherited skin diseases that are characterized by multiple hyperkeratotic plaques distributed on the palms and soles. To date, two different loci in chromosomal regions 15q22-15q24 and 8q24.13-8q24.21 have been reported. Pathogenic mutations, however, have yet to be identified. In order to elucidate the genetic cause of PPKP type Buschke-Fischer-Brauer (PPKP1), we performed exome sequencing in five affected individuals from three families, and we identified in chromosomal region 15q22.33-q23 two heterozygous nonsense mutations-c.370C>T (p.Arg124(∗)) and c.481C>T (p.Arg161(∗))-in AAGAB in all affected individuals. Using immunoblot analysis, we showed that both mutations result in premature termination of translation and truncated protein products. Analyses of mRNA of affected individuals revealed that the disease allele is either not detectable or only detectable at low levels. To assess the consequences of the mutations in skin, we performed immunofluorescence analyses. Notably, the amount of granular staining in the keratinocytes of affected individuals was lower in the cytoplasm but higher around the nucleus than it was in the keratinocytes of control individuals. AAGAB encodes the alpha-and gamma-adaptin-binding protein p34 and might play a role in membrane traffic as a chaperone. The identification of mutations, along with the results from additional studies, defines the genetic basis of PPKP1 and provides evidence that AAGAB plays an important role in skin integrity.

show abstract

mentioning

confidence: 99%

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Giehl

Eckstein

Pasternack

et al. 2012

The American Journal of Human Genetics

100

View full text Add to dashboard Cite

show abstract

“…Gao et al . and Mamaï et al . refined localization of a PPPK gene to a region at 15q22.2–15q22.31 and a locus to only 0·967 Mb at chromosome 15, respectively.…”

mentioning

confidence: 99%

Loss-of-function mutation inAAGABin Chinese families with punctuate palmoplantar keratoderma

Yang

Shi

et al. 2013

Br J Dermatol

View full text Add to dashboard Cite

show abstract

“…The questionnaire was conducted to collect family data…and family history regarding the disease comorbidity ’ [ 12 ]. (d) [ affected and a number of unaffected individuals]’…were interviewed and examined by two physicians ’ [ 31 ] (e) In the article by Mamai et al, the following information appears in the text ‘Person marked by asterisk are died by different types of cancers’ [ 26 ]. However, we could not find any asterisk symbols.…”

Section: Resultsmentioning

confidence: 99%

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature

Gram,

Bjerrelund,

Jelsig

et al. 2023

Orphanet J Rare Dis

View full text Add to dashboard Cite

Background An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for various types of malignancies while others caution that an association is not well-established. In this systematic review, we summarized and evaluated the current evidence for a possible association between PPPK1 and malignancy. Methods The review was conducted along PRISMA guidelines. The search used Embase, MEDLINE, Scopus, and the Human Gene Mutation Database up to March 2022. All studies reporting on individuals with the diagnosis of PPPK1 with or without history of malignancy were included. Two authors screened for eligible studies, extracted predefined data, and performed a quality assessment. Results Of 773 studies identified, 45 were included. Most studies were reports on single families (24 of 45 studies) or multiple families (10 of 45 studies). The number of index cases with PPPK1 across all included studies was 280, and when family members reported with PPPK1 were added, a total of 817 individuals were identified. Overall, 23 studies reported on individuals with PPPK1 with a history of malignancy, whereas 22 studies reported on individuals with PPPK1 without a history of malignancy. Although the extracted data were not considered to be of sufficient quality to synthesize and answer our research question, the review did not confirm an association between PPPK1 and malignancy. Conclusion This review shows that there is a lack of well-designed studies on this topic to conclude whether individuals with PPPK1 have an increased risk of malignancy. Based on the present literature, however, we could not confirm an association between PPPK1 and malignancy and find it highly questionable if patients with PPPK1 should be offered surveillance for malignancies.

show abstract

Reduction of palmoplantar keratoderma Buschke–Fischer–Brauer locus to only 0.967Mb

Cited by 9 publications

References 8 publications

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Nonsense Mutations in AAGAB Cause Punctate Palmoplantar Keratoderma Type Buschke-Fischer-Brauer

Loss-of-function mutation inAAGABin Chinese families with punctuate palmoplantar keratoderma

Is punctate palmoplantar keratoderma type 1 associated with malignancy? A systematic review of the literature

Contact Info

Product

Resources

About