Analysis of mutations in the XPD gene in a patient with brittle hair

Saeam Shin, Juwon Kim, Yoonjung Kim, Je Young Sun, Jong Ha Yoo, Kyung A. Lee

Research output: Contribution to journalArticlepeer-review

4 Citations (Scopus)


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 languageEnglish
Pages (from-to)323-327
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Issue number3
Publication statusPublished - 2013

All Science Journal Classification (ASJC) codes

  • Microbiology
  • Immunology and Allergy
  • Pathology and Forensic Medicine
  • Immunology
  • Molecular Biology
  • Hematology
  • Clinical Biochemistry
  • Medical Laboratory Technology


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