Phenotype: Meleda disease


OMIM: 248300
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

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SLURP1 || c.296G>A

Gene/Locus:    SLURP1
Dna Change:    c.296G>A
Protein Change:    p.Cys99Tyr
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 3
Transcript:    NM_020427.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNASfax region3 patients/21 patientsNAMarrakchi S et al., 2003Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J, . Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.. J. Invest. Dermatol.. 2003; 120(3):351-5
TunisiaNASouthern2 patients/1familiesNABchetnia M et al., 2013Bchetnia M, Laroussi N, Youssef M, Charfeddine C, Ben Brick AS, Boubaker MS, Mokni M, Abdelhak S, Zili J, Benmously R, . Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.. Biomed Res Int. 2013; 2013(0):206803

SLURP1 || c.82delT

Gene/Locus:    SLURP1
Dna Change:    c.82delT
Protein Change:    p.Cys28AlafsX5
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon2
Transcript:    NM_020427.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA1 family/4 unrelated familiesNAMarrakchi S et al., 2003Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J, . Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.. J. Invest. Dermatol.. 2003; 120(3):351-5
AlgeriaNANANANAFischer J et al., 2001Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF, . Mutations in the gene encoding SLURP-1 in Mal de Meleda.. Hum. Mol. Genet.. 2001; 10(8):875-80
TunisiaNANA1 family/11 unrelated familiesNAMarrakchi S et al., 2003Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J, . Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.. J. Invest. Dermatol.. 2003; 120(3):351-5

SLURP1 || 178+1G>A

Gene/Locus:    SLURP1
Dna Change:    178+1G>A
Protein Change:   
Mutation Type:    Substitution
Mutation Effect:    Splice site
Location:    intron 2
Transcript:    NM_020427.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA3 families/12 familiesNAFischer J et al., 2001Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF, . Mutations in the gene encoding SLURP-1 in Mal de Meleda.. Hum. Mol. Genet.. 2001; 10(8):875-80

SLURP1 || c.286C>T

Gene/Locus:    SLURP1
Dna Change:    c.286C>T
Protein Change:    p.Arg96X
Mutation Type:    Substitution
Mutation Effect:    Nonsense
Location:    exon 3
Transcript:    NM_020427.2

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TurkeyNANA4 families/4 familiesNAHu G et al., 2003Hu G, Yildirim M, Baysal V, Yerebakan O, Yilmaz E, Inaloz HS, Martinez-Mir A, Christiano AM, Celebi JT, . A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.. J. Invest. Dermatol.. 2003; 120(6):967-9

References

Bchetnia M, Laroussi N, Youssef M, Charfeddine C, Ben Brick AS, Boubaker MS, Mokni M, Abdelhak S, Zili J, Benmously R, Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region.Biomed Res Int. 2013; 2013(0):206803

Fischer J, Bouadjar B, Heilig R, Huber M, Lefèvre C, Jobard F, Macari F, Bakija-Konsuo A, Ait-Belkacem F, Weissenbach J, Lathrop M, Hohl D, Prud'homme JF, Mutations in the gene encoding SLURP-1 in Mal de Meleda.Hum. Mol. Genet.. 2001; 10(8):875-80

Hu G, Yildirim M, Baysal V, Yerebakan O, Yilmaz E, Inaloz HS, Martinez-Mir A, Christiano AM, Celebi JT, A recurrent mutation in the ARS (component B) gene encoding SLURP-1 in Turkish families with mal de Meleda: evidence of a founder effect.J. Invest. Dermatol.. 2003; 120(6):967-9

Marrakchi S, Audebert S, Bouadjar B, Has C, Lefèvre C, Munro C, Cure S, Jobard F, Morlot S, Hohl D, Prud'homme JF, Zahaf A, Turki H, Fischer J, Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.J. Invest. Dermatol.. 2003; 120(3):351-5