Cancer prone diseases
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Ichtyosis, brittle hair, intellectual impairment, decreased fertility, and short stature syndrome (IBIDS)
234050 , 601675 , 616390 , 616395
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).
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
depends on the DNA repair defect (photosensitivity: XPD-ERCC2, XPB-ERCC3, TTD-A) and on the transcription errors (other signs)
no known chromosome abnormalities
Genes involved and Proteins
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
, also called ERCC3, located in 2q21; and
all the other patients mutated in the XPD gene (TTD\/XPD), involving
, also called ERCC2, located in 19q13
Nucleotide excision repair and human syndromes.
de Boer J et al
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
de Boer J et al
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