Mutations in the SLURP-1 gene underlie Mal de Meleda in three Pakistani families.

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.

• 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)

Chemical References

• Antigens, Ly
• SLURP1 protein, human
• Urokinase-Type Plasminogen Activator

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)