Molecular characterization of CPS1 deletions by array CGH

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 varyi...

Full description

Saved in:
Bibliographic Details
Published in:Molecular genetics and metabolism 2011-01, Vol.102 (1), p.103-106
Main Authors: 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.
Format: Article
Language:English
Subjects:
Array CGH
Base Sequence
Carbamoyl-Phosphate Synthase (Ammonia) - genetics
Carbamoyl-Phosphate Synthase I Deficiency Disease - diagnosis
Carbamoyl-Phosphate Synthase I Deficiency Disease - genetics
Child, Preschool
CPSI deficiency
Fatal Outcome
Female
Gene Deletion
Heterozygote
Humans
Infant, Newborn
Large deletion
Male
Oligonucleotide Array Sequence Analysis
Polymorphism, Single Nucleotide
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2010.08.020