A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship

Pehlivan D., Cefle K., Raams A., Ozturk Ş., Baykal C., Kleijer W. J., ...Daha Fazla

JOURNAL OF DERMATOLOGY, cilt.39, sa.12, ss.1016-1021, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 39 Sayı: 12
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1111/j.1346-8138.2012.01662.x
  • Dergi Adı: JOURNAL OF DERMATOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1016-1021
  • Anahtar Kelimeler: genotype-phenotype correlation, homozygous, R722W, trichothiodystrophy, XPD, DNA-REPAIR, XERODERMA-PIGMENTOSUM, GENETIC-HETEROGENEITY, BASAL TRANSCRIPTION, COCKAYNE-SYNDROME, ITALIAN PATIENTS, EXCISION-REPAIR, FACTOR TFIIH, DEFICIENCY, DISORDER
  • İstanbul Üniversitesi Adresli: Evet

Özet

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 genotypephenotype correlation study showed patients who carry R722W mutation have a more severe TTD phenotype than other types of mutations.