OMIM: 278720Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | XPC |
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| Dna Change: | c.1643_1644delTG |
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| Protein Change: | p.Val548AlafsX25 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | Frameshift |
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| Location: | exon 9 |
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| Transcript: | NM_004628.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | NA | NA | NA | 1250 years (50 generations) | Soufir N et al., 2010Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A, . A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.. J. Invest. Dermatol.. 2010; 130(6):1537-42 |
| Morocco | NA | NA | carrier frequency was estimated to be 1/250 | NA | Doubaj Y et al., 2012Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A, . Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.. J. Dermatol.. 2012; 39(4):382-4 |
| Morocco | NA | NA | NA | 1250 years (50 generations) | Soufir N et al., 2010Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A, . A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.. J. Invest. Dermatol.. 2010; 130(6):1537-42 |
| Tunisia | NA | NA | NA | 1250 years (50 generations) | Soufir N et al., 2010Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A, . A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.. J. Invest. Dermatol.. 2010; 130(6):1537-42 |
| Tunisia | NA | NA | NA | NA | Ben Rekaya M et al., 2009Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M, . High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.. J. Hum. Genet.. 2009; 54(7):426-9 |
| Gene/Locus: | XPC |
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| Dna Change: | c.850G>T |
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| Protein Change: | p.Glu284X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 7 |
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| Transcript: | NM_004628.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | Southern | 3 patients/ 4 patients from 4 families | NA | Ben Rekaya M et al., 2013Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, Abdelhak S, . Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.. Biomed Res Int. 2013; 2013(0):316286 |
References
Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, Abdelhak S, Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.Biomed Res Int. 2013; 2013(0):316286
Ben Rekaya M, Messaoud O, Talmoudi F, Nouira S, Ouragini H, Amouri A, Boussen H, Boubaker S, Mokni M, Mokthar I, Abdelhak S, Zghal M, High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.J. Hum. Genet.. 2009; 54(7):426-9
Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A, Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.J. Dermatol.. 2012; 39(4):382-4
Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A, A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.J. Invest. Dermatol.. 2010; 130(6):1537-42