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Molecular characterization of CPS1 deletions by array CGH


Wang, J; Shchelochkov, O A; Zhan, H; Li, F; Chen, L C; Brundage, E K; Pursley, A N; Schmitt, E S; Häberle, J; Wong, L J C (2011). Molecular characterization of CPS1 deletions by array CGH. Molecular Genetics and Metabolism, 102(1):103-106.

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.

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.

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Additional indexing

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:January 2011
Deposited On:26 Feb 2012 11:27
Last Modified:05 Apr 2016 15:36
Publisher:Elsevier
ISSN:1096-7192
Publisher DOI:https://doi.org/10.1016/j.ymgme.2010.08.020
PubMed ID:20855223

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