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Trichothiodystrophy causative TFIIEβ mutation affects transcription in highly differentiated tissue
Arjan F Theil1, Imke K Mandemaker1, Emile van den Akker2
1Department of Molecular Genetics, Cancer Genomics Netherlands, Erasmus MC, Rotterdam, The Netherlands.
Human Molecular Genetics
|October 4, 2017
Summary
Trichothiodystrophy (TTD) is a rare disorder affecting hair and nails. A mutation in GTF2E2/TFIIEβ causes temperature-sensitive transcription defects, leading to specific TTD symptoms like anemia, independent of DNA repair.
Area of Science:
- Genetics
- Molecular Biology
- Developmental Biology
Background:
- Trichothiodystrophy (TTD) is a rare genetic disorder causing brittle hair and nails.
- Patients exhibit variable symptoms including ichthyosis, intellectual disability, and anemia.
- Photosensitive TTD cases are linked to DNA repair defects in transcription factor II H (TFIIH).
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