title: A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.
abstract: Trichothiodystrophy (TTD) is a rare, recessive condition involving multiple organs and systems. Four genes associated with nuclear excision repair have been described in the molecular etiology of TTD. There is a significant heterogeneity of clinical and laboratory findings of TTD, even in individuals carrying the same mutation. Worldwide, approximately 120 cases have been reported, mostly from Western populations and the mutations are compound heterozygous. We herein present clinical and laboratory findings of a female patient with a homozygous mutation, R722W, in the XPD gene. To date, two patients who carry the same mutation have been reported. Our genotype-phenotype correlation study showed patients who carry R722W mutation have a more severe TTD phenotype than other types of mutations.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
authors.forename: Davut
authors.initials: D
authors.lastname: Pehlivan
authors.forename: Kivanc
authors.initials: K
authors.lastname: Cefle
authors.forename: Anja
authors.initials: A
authors.lastname: Raams
authors.forename: Sukru
authors.initials: S
authors.lastname: Ozturk
authors.forename: Can
authors.initials: C
authors.lastname: Baykal
authors.forename: Wim J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: Sukru
authors.initials: S
authors.lastname: Palanduz
authors.forename: Nicolaas G J
authors.initials: NG
authors.lastname: Jaspers
mesh_terms: D000328:Adult; D005260:Female; D005838:Genotype; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype; D054463:Trichothiodystrophy Syndromes / Q000235:genetics*; D014421:Turkey; D051759:Xeroderma Pigmentosum Group D Protein / Q000235:genetics*
chemical_list: D051759:Xeroderma Pigmentosum Group D Protein; C497292:ERCC2 protein, human