A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
| Autor: | Yassamine Doubaj, Wiam Smaili, Fatima-Zahra Laarabi, Abdelaziz Sefiani |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Proband Male medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Xeroderma pigmentosum Novel mutation DNA Mutational Analysis XPC Moroccan lcsh:Medicine Black People Case Report Frameshift mutation 03 medical and health sciences Exon Young Adult Prevalence Medicine Humans Genetic Predisposition to Disease skin and connective tissue diseases Frameshift Mutation Genetics Xeroderma Pigmentosum integumentary system business.industry Genetic heterogeneity lcsh:R Genodermatosis nutritional and metabolic diseases General Medicine medicine.disease Founder Effect DNA-Binding Proteins Morocco 030104 developmental biology Mutation (genetic algorithm) Medical genetics business |
| Zdroj: | Journal of Medical Case Reports Journal of Medical Case Reports, Vol 11, Iss 1, Pp 1-4 (2017) |
| ISSN: | 1752-1947 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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