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 language | English |
|---|---|
| Pages (from-to) | 323-327 |
| Number of pages | 5 |
| Journal | Annals of Clinical and Laboratory Science |
| Volume | 43 |
| Issue number | 3 |
| Publication status | Published - 2013 Aug 7 |
Fingerprint
All Science Journal Classification (ASJC) codes
- Microbiology
- Immunology and Allergy
- Pathology and Forensic Medicine
- Immunology
- Molecular Biology
- Hematology
- Clinical Biochemistry
- Medical Laboratory Technology
Cite this
}
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 journal › Article
TY - JOUR
T1 - Analysis of mutations in the XPD gene in a patient with brittle hair
AU - Shin, Saeam
AU - Kim, Juwon
AU - Kim, Yoonjung
AU - Sun, Je Young
AU - Yoo, Jong Ha
AU - Lee, Kyung A.
PY - 2013/8/7
Y1 - 2013/8/7
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=84881009110&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84881009110&partnerID=8YFLogxK
M3 - Article
C2 - 23884229
AN - SCOPUS:84881009110
VL - 43
SP - 323
EP - 327
JO - Annals of Clinical and Laboratory Science
JF - Annals of Clinical and Laboratory Science
SN - 0091-7370
IS - 3
ER -