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 journalArticle

1 Citation (Scopus)

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 languageEnglish
Pages (from-to)323-327
Number of pages5
JournalAnnals of Clinical and Laboratory Science
Volume43
Issue number3
Publication statusPublished - 2013 Aug 7

Fingerprint

Transcription Factor TFIIH
Trichothiodystrophy Syndromes
Xeroderma Pigmentosum
Sulfur
Hair
Genes
Mutation
Ichthyosis
Dilatation and Curettage
Inheritance Patterns
Genetic Association Studies
Intellectual Disability
Computer Simulation
Mothers
Phenotype
Growth

All Science Journal Classification (ASJC) codes

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

Cite this

Shin, Saeam ; Kim, Juwon ; Kim, Yoonjung ; Sun, Je Young ; Yoo, Jong Ha ; Lee, Kyung A. / Analysis of mutations in the XPD gene in a patient with brittle hair. In: Annals of Clinical and Laboratory Science. 2013 ; Vol. 43, No. 3. pp. 323-327.
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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.",
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Shin, S, Kim, J, Kim, Y, Sun, JY, Yoo, JH & Lee, KA 2013, 'Analysis of mutations in the XPD gene in a patient with brittle hair', Annals of Clinical and Laboratory Science, vol. 43, no. 3, pp. 323-327.

Analysis of mutations in the XPD gene in a patient with brittle hair. / Shin, Saeam; Kim, Juwon; Kim, Yoonjung; Sun, Je Young; Yoo, Jong Ha; Lee, Kyung A.

In: Annals of Clinical and Laboratory Science, Vol. 43, No. 3, 07.08.2013, p. 323-327.

Research output: Contribution to journalArticle

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AB - 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.

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