Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti

Bryan Edgar K. Guevara, Chao Kai Hsu, Lu Liu, Alice Feast, Karen Lee P. Alabado, Maricarr Pamela M. Lacuesta, Julia Yu Yun Lee, John A. McGrath

研究成果: Article同行評審

2 引文 斯高帕斯(Scopus)

摘要

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.

原文English
頁(從 - 到)150-153
頁數4
期刊Australasian Journal of Dermatology
57
發行號2
DOIs
出版狀態Published - 2016 五月 1

All Science Journal Classification (ASJC) codes

  • Dermatology

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