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 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

SUBMITTER: Doubaj Y 

PROVIDER: S-EPMC5471900 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature