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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Last update

21/6/2017

Phenotype: Meleda disease

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

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	Sfax region	3 patients/21 patients	NA	Marrakchi 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
Tunisia	NA	Southern	2 patients/1families	NA	Bchetnia 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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	1 family/4 unrelated families	NA	Marrakchi 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
Algeria	NA	NA	NA	NA	Fischer 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
Tunisia	NA	NA	1 family/11 unrelated families	NA	Marrakchi 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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Algeria	NA	NA	3 families/12 families	NA	Fischer 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

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Turkey	NA	NA	4 families/4 families	NA	Hu 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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Meleda disease

References