Clinical Utility Gene Card for: Incontinentia pigmenti

European Journal of Human Genetics

Volumn 21, Issue 7, 2013, Pages 792-

  Fusco, Francesca ^a   Pescatore, Alessandra ^a   Steffann, Julie ^b   Royer, Ghislaine ^b   Bonnefont, Jean Paul ^b   Ursini, Matilde Valeria ^a  

^a INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ANDROGEN RECEPTOR; FRAGILE X MENTAL RETARDATION PROTEIN; GENOMIC DNA; I KAPPA B KINASE GAMMA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN;

ANALYTIC METHOD; ARTICLE; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC PROCEDURE; DIFFERENTIAL DIAGNOSIS; ENZYME ACTIVATION; EXON; GENETIC RISK; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INCONTINENTIA PIGMENTI; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; SKIN DEFECT; DOMINANT GENE; GENETIC ASSOCIATION; GENETIC SCREENING; GENETICS; MUTATION; PATHOLOGY; X CHROMOSOME LINKED DISORDER;

GENES, DOMINANT; GENETIC ASSOCIATION STUDIES; GENETIC DISEASES, X-LINKED; GENETIC TESTING; HUMANS; INCONTINENTIA PIGMENTI; MUTATION;

EID: 84879422774     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.227     Document Type: Article

References (15)

1. Scheuerle A, Ursini MV: Incontinentia Pigmenti; in Pagon RA, Bird TD, Dolan CR, Stephens K (eds) GeneReviews. University of Washington: Seattle (WA), 2010; pp 1993-1999.
2. Hayden MS, Ghosh S: Signaling to NF-kappaB. Genes Dev 2004; 18: 2195-2224.
3. Nelson DL: NEMO, NFkappaB signaling and Incontinentia Pigmenti. Curr Opin Genet Dev 2006; 16: 282-288.
4. Doffinger R, Smahi A, Bessia C et al: X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappa-B signaling. Nat Genet 2001; 27: 277-285.
5. Zonana J, Elder ME, Schneider LC et al: A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 2000; 67: 1555-1562.
6. Fusco F, Bardaro T, Fimiani G et al: Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet 2004; 13: 1763-1773.
7. Fusco F, Pescatore A, Bal E et al: Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations. Hum Mutat 2008; 29: 595-604.
8. Fusco F, Paciolla M, Napolitano F et al: Genomic architecture at the Incontinentia Pigmenti locus favours de novo pathological alleles through different mechanisms. Hum Mol Genet 2012; 21: 1260-1271.
9. Bardaro T, Falco G, Sparago A et al: Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKgamma gene deletion. Hum Mutat 2003; 21: 8-11.
10. Steffann J, Raclin V, Smahi A et al: A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti. Prenat Diagn 2004; 24: 384-388.
11. Aradhya S, Bardaro T, Galgoczy P et al: Multiple pathogenic and benign genomic rearrangements occur at a 35 kb duplication involving the NEMO and LAGE2 genes. Hum Mol Genet 2001a; 10: 2557-2567.
12. Fusco F, Paciolla M, Pescatore A et al: Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4-10 deletion in families with Incontinentia Pigmenti. Hum Mutat 2009; 30: 1284-1291.
13. Allen RC, Zoghbi HY, Moseley AB et al: Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 1992; 51: 1229-1239.
14. Houdayer C, Lemonnier A, Gerard M et al: Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus. Clin Chem Lab Med 1999; 37: 397-402.
15. Hadj-Rabia S, Froidevaux D, Bodak N et al: Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003; 139: 1163-1170.