Abstract | BACKGROUND: Mal de Meleda (MDM) (MIM #248300) is an autosomal recessive palmoplantar keratoderma (PPK). It is characterized clinically by erythematous hyperkeratotic plaques over palms and soles that start early in life and progress later in life in a transgradiens form associated with pain, macerations, foul odor, pseudoainhum, brachydactyly, onychodystrophy and perioral erythema. OBJECTIVE: To look for SLURP-1 gene mutations in patients with MDM. METHODS: We collected peripheral blood samples from Pakistani family members affected with MDM and 100 population-matched unrelated healthy control individuals in EDTA-containing tubes. All exons of the SLURP-1 gene with adjacent sequences at exon-intron borders were amplified. The amplified PCR products were directly sequenced in an ABI Prism 310 Automated Sequencer. Screening assay, using the restriction enzyme HphI was performed. RESULTS: We determined three mutations in the SLURP-1 gene: one novel mutation, c.Ivs1+1G>A, and two recurrent mutations, p.R96X and p.G86R. Screening assays for the novel mutation excluded the possibility of polymorphism. In vivo transcription assays showed that the mutation c.Ivs1+1G>A leads to aberrant splicing events. CONCLUSION: Our results expand the spectrum of mutations in SLURP-1 gene.
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Authors | Muhammad Wajid, Mazen Kurban, Yutaka Shimomura, Angela M Christiano |
Journal | Journal of dermatological science
(J Dermatol Sci)
Vol. 56
Issue 1
Pg. 27-32
(Oct 2009)
ISSN: 1873-569X [Electronic] Netherlands |
PMID | 19692209
(Publication Type: Journal Article, Research Support, N.I.H., Extramural)
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Chemical References |
- Antigens, Ly
- SLURP1 protein, human
- Urokinase-Type Plasminogen Activator
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Topics |
- Antigens, Ly
(genetics)
- Exons
(genetics)
- Female
- Genes, Recessive
(genetics)
- Humans
- Keratoderma, Palmoplantar
(genetics, pathology)
- Male
- Mutation, Missense
(genetics)
- Pedigree
- Skin
(pathology)
- Urokinase-Type Plasminogen Activator
(genetics)
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