Written | 2000-10 | Claude Viguié |
Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue d'Assas, 75006 Paris, France |
Identity |
Other names | Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS) |
Atlas_Id | 10042 |
Genes implicated in | ERCC2 ERCC3 GTF2H5 MPLKIP |
Inheritance | recessive autosomal |
Clinics |
Phenotype and clinics | |
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 |
Prognosis | depends on the DNA repair defect (photosensitivity: XPD-ERCC2, XPB-ERCC3, TTD-A) and on the transcription errors (other signs) |
Cytogenetics |
Inborn conditions | no known chromosome abnormalities |
Genes involved and Proteins |
Note | the DNA repair defect is found in 3 classes: |
Bibliography |
Nucleotide excision repair and human syndromes. |
de Boer J, Hoeijmakers JH |
Carcinogenesis. 2000 ; 21 (3) : 453-460. |
PMID 10688865 |
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. |
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 |
Cancer research. 1999 ; 59 (14) : 3489-3494. |
PMID 10416615 |
Citation |
This paper should be referenced as such : |
Viguié, C |
Trichothiodystrophy (TTD) |
Atlas Genet Cytogenet Oncol Haematol. 2000;4(4):223-223. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Tumors/TrichothioID10042.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
Genes | ERCC3 | ERCC2 |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:30:11 CET 2020 |
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