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

Authors
 Saeam Shin  ;  Juwon Kim  ;  Yoonjung Kim  ;  Je Young Sun  ;  Jong Ha Yoo  ;  Kyung-A Lee 
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.
Full Text
http://www.annclinlabsci.org/content/43/3/323.long
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
김윤정(Kim, Yoon Jung) ORCID logo https://orcid.org/0000-0002-4370-4265
김주원(Kim, Ju Won)
신새암(Shin, Saeam) ORCID logo https://orcid.org/0000-0003-1501-3923
이경아(Lee, Kyung A) ORCID logo https://orcid.org/0000-0001-5320-6705
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/88509
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