title: Molecular characterization of CPS1 deletions by array CGH.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Oleg A
authors.initials: OA
authors.lastname: Shchelochkov
authors.forename: Hongli
authors.initials: H
authors.lastname: Zhan
authors.forename: Fangyuan
authors.initials: F
authors.lastname: Li
authors.forename: Li-Chieh
authors.initials: LC
authors.lastname: Chen
authors.forename: Ellen K
authors.initials: EK
authors.lastname: Brundage
authors.forename: Amber N
authors.initials: AN
authors.lastname: Pursley
authors.forename: Eric S
authors.initials: ES
authors.lastname: Schmitt
authors.forename: Johannes
authors.initials: J
authors.lastname: Häberle
authors.forename: Lee-Jun C
authors.initials: LJ
authors.lastname: Wong
mesh_terms: D001483:Base Sequence; D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics*; D020165:Carbamoyl-Phosphate Synthase I Deficiency Disease / Q000175:diagnosis* / Q000235:genetics; D002675:Child, Preschool; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide
chemical_list: D002222:Carbamoyl-Phosphate Synthase (Ammonia)