Phenotype: Xeroderma pigmentosum, group C


OMIM: 278720
Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

XPC || c.1643_1644delTG

Gene/Locus:    XPC
Dna Change:    c.1643_1644delTG
Protein Change:    p.Val548AlafsX25
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 9
Transcript:    NM_004628.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANANA1250 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
MoroccoNANAcarrier frequency was estimated to be 1/250NADoubaj 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
MoroccoNANANA1250 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
TunisiaNANANA1250 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
TunisiaNANANANABen 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

XPC || c.850G>T

Gene/Locus:    XPC
Dna Change:    c.850G>T
Protein Change:    p.Glu284X
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 7
Transcript:    NM_004628.4

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
TunisiaNASouthern3 patients/ 4 patients from 4 familiesNABen 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