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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.

SUBMITTER: Wang J

PROVIDER: S-EPMC4869965 | biostudies-literature | 2011 Jan

REPOSITORIES: biostudies-literature

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Molecular characterization of CPS1 deletions by array CGH.

Wang Jing J Shchelochkov Oleg A OA Zhan Hongli H Li Fangyuan F Chen Li-Chieh LC Brundage Ellen K EK Pursley Amber N AN Schmitt Eric S ES Häberle Johannes J Wong Lee-Jun C LJ

Molecular genetics and metabolism 20100919 1

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 ...[more]

PMID: 20855223

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