Download Cancer Prone Disease Section Trichothiodystrophy (TTD) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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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