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Trichothiodystrophy (TTD)

Identity

Other namesPIBIDS syndrome or IBIDS syndrome
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

    • External links

    OMIM601675
    OrphanetIBIDS syndrome

    Bibliography

    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
     
    Nucleotide excision repair and human syndromes.
    de Boer J, Hoeijmakers JH
    Carcinogenesis. 2000 ; 21 (3) : 453-460.
    PMID 10688865
     
    REVIEW articlesautomatic search in PubMed
    Last year publicationsautomatic search in PubMed

    Contributor(s)

    Written10-2000Claude Viguié

    Citation

    This paper should be referenced as such :
    Viguié C . Trichothiodystrophy (TTD). Atlas Genet Cytogenet Oncol Haematol. October 2000 .
    URL : http://AtlasGeneticsOncology.org/Kprones/TrichothioID10042.html

    © Atlas of Genetics and Cytogenetics in Oncology and Haematology
    indexed on : Mon May 12 18:14:02 2008

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