These authors contributed equally to this manuscript.
A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype–phenotype relationship
Article first published online: 5 OCT 2012
© 2012 Japanese Dermatological Association
The Journal of Dermatology
Volume 39, Issue 12, pages 1016–1021, December 2012
How to Cite
Pehlivan, D., Cefle, K., Raams, A., Ozturk, S., Baykal, C., Kleijer, W. J., Palanduz, S. and Jaspers, N. G. J. (2012), A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype–phenotype relationship. The Journal of Dermatology, 39: 1016–1021. doi: 10.1111/j.1346-8138.2012.01662.x
Conflict of interest: none.
- Issue published online: 26 NOV 2012
- Article first published online: 5 OCT 2012
- Manuscript Accepted: 13 JUL 2012
- Manuscript Received: 30 APR 2012
- European Commission
- genotype–phenotype correlation;
Trichothiodystrophy (TTD) is a rare, recessive condition involving multiple organs and systems. Four genes associated with nuclear excision repair have been described in the molecular etiology of TTD. There is a significant heterogeneity of clinical and laboratory findings of TTD, even in individuals carrying the same mutation. Worldwide, approximately 120 cases have been reported, mostly from Western populations and the mutations are compound heterozygous. We herein present clinical and laboratory findings of a female patient with a homozygous mutation, R722W, in the XPD gene. To date, two patients who carry the same mutation have been reported. Our genotype–phenotype correlation study showed patients who carry R722W mutation have a more severe TTD phenotype than other types of mutations.