Mutation Spectrum of Fumarylacetoacetase Gene and Clinical Aspects of Tyrosinemia Type I Disease


DURSUN A. , ÖZGÜL R. K. , Sivri S., TOKATLI A. , Guzel A., Mesci L., ...Daha Fazla

JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1, cilt.1, ss.17-21, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 1
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1007/8904_2011_10
  • Dergi Adı: JIMD REPORTS: CASE AND RESEARCH REPORTS, 2011/1
  • Sayfa Sayıları: ss.17-21

Özet

Tyrosinemia type I (OMIM 276700) is a rare, autosomal recessive disorder caused by a deficiency in the fumarylacetoacetate hydrolase (FAH) enzyme. This study examined the spectrum of FAH gene mutation in 32 patients with tyrosinemia type I. In addition, clinical and biochemical findings were evaluated to establish a genotype phenotype relationship in the patients. Mutation screening was performed using a 50K custom-designed resequencing microarray chip (TR_06_01r520489, Affymetrix) and sequencing analysis. Of the 12 different mutations found, 6 are categorized as novel. Three of the mutations-IVS6-1G>A, D233V, and IVS3-3C>G-are the most common in Turkish patients, comprising 25%, 17.1%, and 12.5% of mutant alleles, respectively.