文献简介

出版社:Indian J Med Res 133

作  者:Seema Thakur, Ratna D. Puri, Sudha Kohli, Renu Saxena & I.C. Verma

编  号:

关键字:Incontinentia pigmenti (IP) - NEMO gene - skin lesions

年  份:2011   点击量:733

文献摘要


The diagnosis of incontinentia pigmenti (IP) is fairly easy in the presence of classical features, but can be difficult in cases with partial or non-classical features, especially in the parents. The demonstration that the disease is caused by mutations in the NEMO gene, has remarkably improved genetic counselling for this disorder. We present four families of IP in whom molecular studies established an unequivocal diagnosis in the affected daughters, and showed two mothers to be carriers, thus allowing accurate genetic counselling and prenatal diagnosis. 根据其典型的临床特征对色素失禁症的诊断是相当容易的,但是在具有局部或者非典型的临床特征的病例中诊断是困难的,特别在父母中。这表明该疾病是由于NEMO基因突变引起的,并且显着提高了对这种疾病的遗传咨询。我们报道了患有IP的四个家庭,分子生物学研究的建立明确的诊断显示女儿受影响,并显示了两个母亲是携带者,因此准确的遗传咨询和产前诊断应给与考虑。