title: Analysis of mutations in the XPD gene in a patient with brittle hair.
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.
authors.affiliation: Department of Laboratory Medicine, Yonsei University College of Medicine, 146-9 Dogokdong, Kangnamgu, Seoul 146-92, Republic of Korea.
authors.forename: Saeam
authors.initials: S
authors.lastname: Shin
authors.forename: Juwon
authors.initials: J
authors.lastname: Kim
authors.forename: Yoonjung
authors.initials: Y
authors.lastname: Kim
authors.forename: Je Young
authors.initials: JY
authors.lastname: Sun
authors.forename: Jong Ha
authors.initials: JH
authors.lastname: Yoo
authors.forename: Kyung-A
authors.initials: KA
authors.lastname: Lee
mesh_terms: D000595:Amino Acid Sequence; D017931:DNA Primers / Q000737:chemistry; D005260:Female; D056726:Genetic Association Studies; D006201:Hair Diseases / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017386:Sequence Homology, Amino Acid; D054463:Trichothiodystrophy Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D017931:DNA Primers; D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human
keywords: XPD; autosomal dominant; genotype-phenotype correlation; trichothiodystrophy