Molecular characterization of CPS1 deletions by array CGH.
Mol Genet Metab
; 102(1): 103-6, 2011 Jan.
Article
in En
| MEDLINE
| ID: mdl-20855223
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Carbamoyl-Phosphate Synthase (Ammonia)
/
Gene Deletion
/
Carbamoyl-Phosphate Synthase I Deficiency Disease
Type of study:
Prognostic_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Mol Genet Metab
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2011
Document type:
Article
Affiliation country:
United States