OMIM: 278750Inheritance: Autosomal recessive
Classification: Congenital malformations, deformations and chromosomal abnormalities
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | POLH |
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| Dna Change: | g.36847_40771del3925 |
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| Protein Change: | loss of exon 10 |
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| Mutation Type: | Deletion |
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| Mutation Effect: | |
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| Location: | introns 9 and 10 |
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| Transcript: | NG_009252.1 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 2 patients/16 patients from 10 families | NA | Ben Rekaya M et al., 2014Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H, . A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.. Biomed Res Int. 2014; 2014(0):256245 |
References
Ben Rekaya M, Laroussi N, Messaoud O, Jones M, Jerbi M, Naouali C, Bouyacoub Y, Chargui M, Kefi R, Fazaa B, Boubaker MS, Boussen H, Mokni M, Abdelhak S, Zghal M, Khaled A, Yacoub-Youssef H, A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapy.Biomed Res Int. 2014; 2014(0):256245