Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease. Issue 2 (12th December 2013)

• Record Type: Journal Article
• Authors: Conte, Matilde Immacolata; Pescatore, Alessandra; Paciolla, Mariateresa; Esposito, Elio; Miano, Maria Giuseppina; Lioi, Maria Brigida; McAleer, Maeve A.; Giardino, Giuliana; Pignata, Claudio; Irvine, Alan D.; Scheuerle, Angela E.; Royer, Ghislaine; Hadj‐Rabia, Smail; Bodemer, Christine; Bonnefont, Jean‐Paul; Munnich, Arnold; Smahi, Asma; Steffann, Julie; Fusco, Francesca; Ursini, Matilde Valeria
• Is Part Of: Human mutation. Volume 35:Issue 2(2014:Feb.)
• Page Start: 165
• Page End: 177
• Publication Date: 2013-12-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22483
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22483-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Incontinentia pigmenti is a genomic disorder caused by mutation in <italic>IKBKG/NEMO</italic> X‐linked gene. Here, we present 21 point mutations previously unreported and a new microindel (c.436_471delinsT, p.Val146X) arising through a DNA‐replication‐repair fork‐stalling‐and‐template‐switching and microhomology‐mediated‐end‐joining mechanism in a sporadic IP case. A locus specific database, accessible at http://IKBKG.lovd.nl, will give a complete overview of all the variants identified and secure the appropriate use of genotype and phenotype information of patients. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg407qd8cp" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>