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

5 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

Bibliographical note

Funding Information:
We thank H. Yeger for providing us with the neuroblastoma cell lines; the Toronto Forensic Laboratory and Dr. M. Barrett at the Fred Hutchinson Research Institute in Seattle, Washington, for genotyping our cell lines; and Yunping Lin and Weili Ma for their help with the apoptosis and cell cycle assays. This work was supported by the Canadian Institutes of Health Research, the National Cancer Institute of Canada, and the Hospital for Sick Children (Toronto) Foundation.

All Science Journal Classification (ASJC) codes

  • General Medicine


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