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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

    Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

    Genes ERCC3 ERCC2

    External links

    OMIM234050
    OMIM601675
    OMIM616390
    OMIM616395
    OrphanetTrichothiodystrophy
    ICD-10L67.8  
    Other database/diseases/12109/trichothiodystrophy (GARD)
    Genes implicated inERCC2   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inERCC3   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inGTF2H5   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  
    Genes implicated inMPLKIP   [ Atlas ]   [ Entrez ]  [ LOVD ]  [ GeneReviews ]  

    REVIEW articlesautomatic search in PubMed
    Last year articlesautomatic search in PubMed


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    indexed on : Fri Oct 1 16:52:51 CEST 2021

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