Novel Mutations in the PC Gene in Patients with Type B Pyruvate Carboxylase Deficiency


Ostergaard E., Duno M., Moller L. B. , Kalkanoglu-Sivri H. S. , DURSUN A. , ALİEFENDİOĞLU D., ...Daha Fazla

JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/6, cilt.9, ss.1-5, 2013 (SCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 9
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1007/8904_2012_173
  • Dergi Adı: JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/6
  • Sayfa Sayıları: ss.1-5

Özet

We have investigated seven patients with the type B form of pyruvate carboxylase (PC) deficiency. Mutation analysis revealed eight mutations, all novel. In a patient with exon skipping on cDNA analysis, we identified a homozygous mutation located in a potential branch point sequence, the first possible branch point mutation in PC. Two patients were homozygous for missense mutations (with normal protein amounts on western blot analysis), and two patients were homozygous for nonsense mutations. In addition, a duplication of one base pair was found in a patient who also harboured a splice site mutation. Another splice site mutation led to the activation of a cryptic splice site, shown by cDNA analysis.