Moise L Levy

US Patent:

6824972, Nov 30, 2004

Filed:

May 22, 2001

Appl. No.:

09/863049

Inventors:

Sue J. Kenwrick - Cambridge, GB
Hayley Woffendin - Cambridge, GB
Arnold Munnich - Paris, FR
Asmae Smahi - Saint Ouen, FR
Alain Israel - Paris, FR
Annemarie Poustka - Heidelberg, 69120, DE
Nina Heiss - Heidelberg, 69115, DE
Michele DUrso - Naples, IT
Richard A. Lewis - Houston TX
David L. Nelson - Houston TX
Swaroop Aradhya - Houston TX
Moise Levy - Houston TX

Assignee:

Baylor College of Medicine - Houston TX
Cambridge University Technical Services Limited - Cambridge
Consiglio Nazionale Delle Richerche - Rome
INSERM - Cedex 13
LInstitut Pasteur - Paris
Annemarie Poustka - Heidelberg
Nina Heiss - Heidelberg

International Classification:

C12Q 100

US Classification:

435 4, 435 5, 435 6, 435 7, 536 231

Abstract:

Incontinentia Pigmenti (IP) is a neurocutaneous genodermatosis that segregates as an X-linked dominant disorder with a high probability of prenatal male lethality. A locus in Xq28 containing NF- B Essential Modulator, a gene product involved in the activation of NF-kB and central to many pro-inflammatory and apoptotic pathways, contains mutations in the majority of cases of IP. Disclosed are methods, compositions and kits directed to a defect in a NF- B related disease such as IP.