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

Authors
 Saeam Shin ; Juwon Kim ; Kyung-A Lee ; Jong Ha Yoo ; Je Young Sun ; Yoonjung Kim 
Citation
 Annals of Clinical and Laboratory Science, Vol.43(3) : 323~327, 2013 
Journal Title
 Annals of Clinical and Laboratory Science 
ISSN
 0091-7370 
Issue Date
2013
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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/88509
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
Yonsei Authors
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Link
 http://www.annclinlabsci.org/content/43/3/323.long
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