Van gen naar ziekte; incontinentia pigmenti en het NEMO-gen
作者： A.P. Oranje , A. Wagner , H.J. Simonsz , A.H. van der Hout , W.F. Arts
DOI:
关键词:
摘要: : Incontinentia pigmenti (IP; MIM308310) is a rare neurocutaneous X-dominant inherited disorder. Besides skin and neurological abnormalities, there also ophthalmologic dental involvement. The first stage characterised by inflammation apoptosis of the central nervous system. consists vesicles second verrucous elements; third hyperpigmentation while fourth slightly atrophic hypopigmentations. abnormalities follow lines Blaschko. disorder observed almost exclusively in girls, but diseased boys are more seriously affected. IP gene localised on chromosome Xq28. Mutations NEMO-gene responsible for IP. This codes nuclear factor-KB essential modulator protein (NEMO; synonym: inhibitor kappaB kinase (IKK)y). In absence serious symptoms, prognosis not poor
ntvg.nl 参考文章(8)
Sharon Elizabeth Albers, Textbook of Pediatric Dermatology Archives of Dermatology. ,vol. 137, pp. 517- 517 ,(2001)
Dan A. Wiklund, Incontinentia Pigmenti Archives of Dermatology. ,vol. 116, pp. 701- 703 ,(1980) , 10.1001/ARCHDERM.1980.01640300089028
Sabine J Hennel, Paul G Ekert, Joseph J Volpe, Terrie E Inder, Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti Pediatric Neurology. ,vol. 29, pp. 148- 150 ,(2003) , 10.1016/S0887-8994(03)00150-4
Smaïl Hadj-Rabia, David Froidevaux, Nathalie Bodak, Dominique Hamel-Teillac, Asma Smahi, Yasmina Touil, Sylvie Fraitag, Yves de Prost, Christine Bodemer, Clinical Study of 40 Cases of Incontinentia Pigmenti Archives of Dermatology. ,vol. 139, pp. 1163- 1170 ,(2003) , 10.1001/ARCHDERM.139.9.1163
Andrew G Lee, Morton F Goldberg, Jonathan H Gillard, Peter B Barker, R Nick Bryan, Intracranial Assessment of Incontinentia Pigmenti Using Magnetic Resonance Imaging, Angiography, and Spectroscopic Imaging Archives of Pediatrics & Adolescent Medicine. ,vol. 149, pp. 573- 580 ,(1995) , 10.1001/ARCHPEDI.1995.02170180103019
Alexander L. Berlin, Amy S. Paller, Lawrence S. Chan, Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology Journal of The American Academy of Dermatology. ,vol. 47, pp. 169- 190 ,(2002) , 10.1067/MJD.2002.125949
Swaroop Aradhya, Hayley Woffendin, Tracy Jakins, Tiziana Bardaro, Teresa Esposito, Asmae Smahi, Christine Shaw, Moise Levy, Arnold Munnich, Michele D’Urso, Richard A Lewis, Sue Kenwrick, David L Nelson, A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations Human Molecular Genetics. ,vol. 10, pp. 2171- 2179 ,(2001) , 10.1093/HMG/10.19.2171
Loretta Fiorillo, D.Barry Sinclair, Mary L O’Byrne, Alfons L Krol, Bilateral cerebrovascular accidents in incontinentia pigmenti Pediatric Neurology. ,vol. 29, pp. 66- 68 ,(2003) , 10.1016/S0887-8994(03)00144-9