Guevara Bryan Edgar K, Hsu Chao-Kai, Liu Lu, Feast Alice, Alabado Karen Lee P, Lacuesta Maricarr Pamela M, Lee Julia Yu-Yun, McGrath John A
Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
St John's Institute of Dermatology, King's College London, London, UK.
Australas J Dermatol. 2016 May;57(2):150-3. doi: 10.1111/ajd.12407. Epub 2015 Oct 6.
Incontinentia pigmenti is a rare, multisystem X-linked dominant genetic disorder caused by mutations in IKBKG, the encoding inhibitor of kappa light polypeptide gene enhancer in B-cells. Almost 80% of all cases result from a recurrent intragenic deletion mutation that removes exon 4-10. At present, this mutation can be detected by a multi-primer polymerase chain reaction (PCR) technique although current protocols may preferentially amplify the wild-type allele and miss the deletion. Here, we report a female infant with incontinentia pigmenti that also affected her mother and sister, and two spontaneously aborted male siblings. We developed a modified PCR amplification method that provides more robust detection of the exon 4-10 deletion mutation, which was demonstrated in all affected females in this pedigree.
色素失禁症是一种罕见的多系统X连锁显性遗传病，由IKBKG基因突变引起，IKBKG是B细胞中κ轻链多肽基因增强子的编码抑制剂。几乎所有病例的80%是由一个反复出现的基因内缺失突变导致的，该突变缺失了外显子4至10。目前，这种突变可以通过多重引物聚合酶链反应（PCR）技术检测到，尽管目前的方案可能会优先扩增野生型等位基因而遗漏该缺失。在此，我们报告一名患有色素失禁症的女婴，她的母亲和姐姐也受影响，还有两个自然流产的男性同胞。我们开发了一种改良的PCR扩增方法，能更可靠地检测外显子4至10的缺失突变，该方法在这个家系的所有患病女性中得到了验证。
