Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene [12]

British Journal of Dermatology

Volumn 156, Issue 2, 2007, Pages 392-393

  Has, C ^a   Danescu, S ^a   Volz, A ^a   Noh F ^b   Technau, K ^a   Bruckner Tuderman, L ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b Children Hospital Worms   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; I KAPPA B KINASE GAMMA;

BLISTER; BLOOD CHEMISTRY; CASE REPORT; CODON; ERYTHEMA; FEMALE; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; INCONTINENTIA PIGMENTI; LETTER; NEWBORN; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEROLOGY; SKIN BIOPSY;

CODON, NONSENSE; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; I-KAPPA B KINASE; INCONTINENTIA PIGMENTI; INFANT, NEWBORN;

EID: 33846191551     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2006.07649.x     Document Type: Letter

References (6)

1. Hammami-Hauasli N, Schumann H, Raghunath M et al. Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering. J Biol Chem 1998; 273:19228-34.
2. The International Incontinentia Pigmenti Consortium. Genomic rearrangement in NEMO impairs NF-kappa-B activation and is a cause of incontinentia pigmenti. Nature 2000; 405:466-72.
3. Smahi A, Courtois G, Rabia SH et al. The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. Hum Mol Genet 2002; 11:2371-5.
4. 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-κB activation. Hum Mol Genet 2004; 13:1763-73.
5. Aradhya S, Woffendin H, Jakins T et al. A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet 2001; 10:2171-9.
6. Pacheco TR, Levy M, Collyer JC et al. Incontinentia pigmenti in male patients. J Am Acad Dermatol 2006; 55:251-5.