'Molecular Investigation of Genetic Orphan Diseases' Research Unit, Pasteur Institute of Tunis, BP 74, 13 Place Pasteur, 1002 Tunis Belvédère, Tunisia.
Br J Dermatol. 2010 Apr;162(4):883-6. doi: 10.1111/j.1365-2133.2010.09646.x. Epub 2010 Feb 25.
Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A (XP-A) is characterized by the presence of neurological abnormalities in addition to cutaneous symptoms. In the present study, we report a particular family with XP-A in which some members showed an atypical clinical presentation, i.e. unexplained neurological abnormalities with discrete skin manifestations. Molecular investigation allowed identification of a novel XPA mutation and complete phenotype-genotype correlation for this new phenotypic expression of XP-A.
着色性干皮病（XP）是一种罕见的遗传皮肤病，易导致皮肤癌。该疾病分为八组。其中，XP 组 A（XP-A）的特征是除了皮肤症状外，还存在神经异常。在本研究中，我们报告了一个 XP-A 特殊家族，其中一些成员表现出非典型的临床表现，即伴有离散皮肤表现的不明原因神经异常。分子研究鉴定出一种新型 XPA 突变，并对 XP-A 的这种新表型表达进行了完全的表型-基因型相关性分析。
