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Ann Clin Lab Sci. 2013 Summer;43(3):323-7.

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

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1
Department of Laboratory Medicine, Yonsei University College of Medicine, 146-9 Dogokdong, Kangnamgu, Seoul 146-92, Republic of Korea.

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.

KEYWORDS:

XPD; autosomal dominant; genotype-phenotype correlation; trichothiodystrophy

PMID:
23884229
[Indexed for MEDLINE]
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