title: Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti.
abstract: 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.
authors.affiliation: Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
authors.forename: Bryan Edgar K
authors.initials: BE
authors.lastname: Guevara
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK.|Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.|Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
authors.forename: Chao-Kai
authors.initials: CK
authors.lastname: Hsu
authors.affiliation: Viapath, St Thomas' Hospital, London, UK.
authors.forename: Lu
authors.initials: L
authors.lastname: Liu
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK.
authors.forename: Alice
authors.initials: A
authors.lastname: Feast
authors.affiliation: Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
authors.forename: Karen Lee P
authors.initials: KL
authors.lastname: Alabado
authors.affiliation: Department of Dermatology, Southern Philippines Medical Center, Davao, Philippines.
authors.forename: Maricarr Pamela M
authors.initials: MP
authors.lastname: Lacuesta
authors.affiliation: Department of Dermatology, National Cheng Kung University Hospital, Tainan, Taiwan.
authors.forename: Julia Yu-Yun
authors.initials: JY
authors.lastname: Lee
authors.affiliation: St John's Institute of Dermatology, King's College London, London, UK.
authors.forename: John A
authors.initials: JA
authors.lastname: McGrath
mesh_terms: D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D025202:Molecular Diagnostic Techniques; D010375:Pedigree; D010679:Philippines; D016133:Polymerase Chain Reaction / Q000379:methods; D017384:Sequence Deletion
chemical_list: C491731:IKBKG protein, human; D051550:I-kappa B Kinase
keywords: Blaschko's lines; X-linked; gene deletion; mosaic; vesicle