Article
Molecular characterization of CPS1 deletions by array CGH.
Molecular genetics and metabolism - 1 Jan 2011
Wang Jing, Shchelochkov Oleg A, Zhan Hongli, Li Fangyuan, Chen Li-Chieh, Brundage Ellen K, Pursley Amber N, Schmitt Eric S, Häberle Johannes, Wong Lee-Jun C
Abstract excerpt
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...
Topics
- Base Sequence
- Carbamoyl-Phosphate Synthase (Ammonia)
- Carbamoyl-Phosphate Synthase I Deficiency Disease
- Child, Preschool
- Fatal Outcome
- Female
- Gene Deletion
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Oligonucleotide Array Sequence Analysis
- Polymorphism, Single Nucleotide