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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Cancer Prone Disease Section Short Communication Trichothiodystrophy (TTD) Claude Viguié Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue d'Assas, 75006 Paris, France (CV) Published in Atlas Database: October 2000 Online updated version : http://AtlasGeneticsOncology.org/Kprones/TrichothioID10042.html DOI: 10.4267/2042/37680 This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence. © 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Cytogenetics Alias: Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS) Inheritance: Recessive autosomal. Inborn conditions No known chromosome abnormalities. Genes involved and proteins Clinics Note The DNA repair defect is found in 3 classes: Patient with TTD-A group (low level of the TFIIH transcription factor), Patients mutated in the XPB gene (TTD/XPB), involving XPB, also called ERCC3, located in 2q21; and All the other patients mutated in the XPD gene (TTD/XPD), involving XPD, also called ERCC2, located in 19q13. Phenotype and clinics Photosensitivity, Ichtiosys, Brittle hair, Intellectual impairment, Decreased fertility, Short stature (PIBIDS syndrome). Photosensitivity is absent in 50% of cases (therefore called IBIDS syndrome). Neoplastic risk This familial disease IS NOT a cancer prone disease but it involves the same complementation groups as in xeroderma pigmentosum and Cockayne syndrome (XPD, XPB), and share defects in similar genes. References de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res. 1999 Jul 15;59(14):3489-94 Prognosis Depends on the DNA repair defect (photosensitivity: XPD-ERCC2, XPB-ERCC3, TTD-A) and on the transcription errors (other signs). de Boer J, Hoeijmakers JH. Nucleotide excision repair and human syndromes. Carcinogenesis. 2000 Mar;21(3):453-60 This article should be referenced as such: Viguié C. Trichothiodystrophy (TTD). Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4):223. Atlas Genet Cytogenet Oncol Haematol. 2000; 4(4) 223