Abstract
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder characterized by sulfur-deficient brittle hair, growth and mental retardation, and ichthyosis. TTD is caused primarily by mutations in the xeroderma pigmentosum group D (XPD) gene, which encodes a subunit of the basal transcription factor IIH. We have identified a novel heterozygous mutation in XPD (c.1906C>T; p. R636W) resulting in mild-phenotype TTD in the proband and her mother. No identical variations were found in one hundred healthy Korean controls. In silico analysis suggested that the novel mutation was a causative mutation for TTD. This genotype-phenotype correlation provides a unique insight into the TTD inheritance pattern and could prove useful in the diagnosis of patients.
Original language | English |
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Pages (from-to) | 323-327 |
Number of pages | 5 |
Journal | Annals of Clinical and Laboratory Science |
Volume | 43 |
Issue number | 3 |
Publication status | Published - 2013 |
All Science Journal Classification (ASJC) codes
- Microbiology
- Immunology and Allergy
- Pathology and Forensic Medicine
- Immunology
- Molecular Biology
- Hematology
- Clinical Biochemistry
- Medical Laboratory Technology