Journal
MOLECULAR GENETICS AND METABOLISM
Volume 102, Issue 1, Pages 103-106Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2010.08.020
Keywords
CPS1 deficiency; Array CGH; Large deletion
Funding
- NICHD NIH HHS [U54 HD061221] Funding Source: Medline
- EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT [U54HD061221] Funding Source: NIH RePORTER
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CPS1 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 CPS1 deficiency is strongly indicated. Published by Elsevier Inc.
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