Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   
X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

Trichothiodystrophy (TTD)

Written2000-10Claude Viguié
Service de Dermatologie, Hôpital Tarnier-Cochin, 89 rue d'Assas, 75006 Paris, France

(Note : for Links provided by Atlas : click)
 

Identity

Other namesIchtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS)
Atlas_Id 10042
Genes implicated inERCC2  ERCC3  GTF2H5  MPLKIP  
Inheritance recessive autosomal

Clinics

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
    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:
  • 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

    •

    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

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Mon Sep 18 17:21:01 CEST 2017

    Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

    For comments and suggestions or contributions, please contact us

    jlhuret@AtlasGeneticsOncology.org.