Molecular characterization of CPS1 deletions by array CGH

Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19.

Abstract

CPSI deficiency usually results in severe hyperammonemia presenting in the first days of life warranting prompt diagnosis. Most CPS1 defects are non-recurrent, private mutations, including point mutation, small insertions and deletions. In this study, we report the detection of large deletions varying from 1.4 kb to >130 kb in the CPS1 gene of 4 unrelated patients by targeted array CGH. These results underscore the importance of analysis of large deletions when only one mutation or no mutations are identified in cases where CPSI deficiency is strongly indicated.

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Carbamoyl-Phosphate Synthase (Ammonia) / genetics*
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / diagnosis*
  • Carbamoyl-Phosphate Synthase I Deficiency Disease / genetics
  • Child, Preschool
  • Fatal Outcome
  • Female
  • Gene Deletion*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide

Substances

  • Carbamoyl-Phosphate Synthase (Ammonia)