A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
Abstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of m...
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| Format: | Article |
| Language: | English |
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BMC
2017-06-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | http://link.springer.com/article/10.1186/s13256-017-1311-6 |
| _version_ | 1830343557697765376 |
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| author | Yassamine Doubaj Wiam Smaili Fatima-Zahra Laarabi Abdelaziz Sefiani |
| author_facet | Yassamine Doubaj Wiam Smaili Fatima-Zahra Laarabi Abdelaziz Sefiani |
| author_sort | Yassamine Doubaj |
| collection | DOAJ |
| description | Abstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many studies, xeroderma pigmentosum complementation group C is the most common form of xeroderma pigmentosum. A founder mutation in the XPC gene was reported in the Maghreb region of northern Africa. According to these findings, the Department of Medical Genetics in Rabat offers molecular diagnosis by screening for the recurrent mutation c.1643_1644delTG which represents 74% of all the probands with xeroderma pigmentosum. Case presentation We describe the case of a 21-year-old Moroccan son of consanguineous parents diagnosed with xeroderma pigmentosum on the basis of sun-exposed skin abnormalities and bilateral ocular involvement. A molecular study led to the identification of a new frameshift insertion of four nucleotides in exon 9. Conclusions To the best of our knowledge, this mutation has not been described. The sequencing of the ninth exon should be proposed as first line molecular analysis for all Moroccan patients with xeroderma pigmentosum. |
| first_indexed | 2024-12-19T22:11:26Z |
| format | Article |
| id | doaj.art-212d9dc704324fb5841cb5f98bcef25a |
| institution | Directory Open Access Journal |
| issn | 1752-1947 |
| language | English |
| last_indexed | 2024-12-19T22:11:26Z |
| publishDate | 2017-06-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj.art-212d9dc704324fb5841cb5f98bcef25a2022-12-21T20:03:54ZengBMCJournal of Medical Case Reports1752-19472017-06-011111410.1186/s13256-017-1311-6A novel frameshift mutation in the XPC gene in a Moroccan patient: a case reportYassamine Doubaj0Wiam Smaili1Fatima-Zahra Laarabi2Abdelaziz Sefiani3Centre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed VCentre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed VCentre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed VCentre de génomique humaine, Faculté de Médecine et de Pharmacie de Rabat, Université Mohammed VAbstract Background Xeroderma pigmentosum is an autosomal recessive inherited disease. The diagnosis is essentially based on clinical findings and the family history. This genodermatosis is genetically heterogeneous; to date, nine genes have been associated to this disorder. Based on the result of many studies, xeroderma pigmentosum complementation group C is the most common form of xeroderma pigmentosum. A founder mutation in the XPC gene was reported in the Maghreb region of northern Africa. According to these findings, the Department of Medical Genetics in Rabat offers molecular diagnosis by screening for the recurrent mutation c.1643_1644delTG which represents 74% of all the probands with xeroderma pigmentosum. Case presentation We describe the case of a 21-year-old Moroccan son of consanguineous parents diagnosed with xeroderma pigmentosum on the basis of sun-exposed skin abnormalities and bilateral ocular involvement. A molecular study led to the identification of a new frameshift insertion of four nucleotides in exon 9. Conclusions To the best of our knowledge, this mutation has not been described. The sequencing of the ninth exon should be proposed as first line molecular analysis for all Moroccan patients with xeroderma pigmentosum.http://link.springer.com/article/10.1186/s13256-017-1311-6Xeroderma pigmentosumXPCNovel mutationMoroccan |
| spellingShingle | Yassamine Doubaj Wiam Smaili Fatima-Zahra Laarabi Abdelaziz Sefiani A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report Journal of Medical Case Reports Xeroderma pigmentosum XPC Novel mutation Moroccan |
| title | A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report |
| title_full | A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report |
| title_fullStr | A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report |
| title_full_unstemmed | A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report |
| title_short | A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report |
| title_sort | novel frameshift mutation in the xpc gene in a moroccan patient a case report |
| topic | Xeroderma pigmentosum XPC Novel mutation Moroccan |
| url | http://link.springer.com/article/10.1186/s13256-017-1311-6 |
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