Communicated by Arnold Munnich
Mutation in Brief
Article first published online: 19 MAR 2003
Copyright © 2003 Wiley-Liss, Inc.
Volume 21, Issue 4, page 444, April 2003
How to Cite
Häberle, J., Schmidt, E., Pauli, S., Rapp, B., Christensen, E., Wermuth, B. and Koch, H.G. (2003), Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Hum. Mutat., 21: 444. doi: 10.1002/humu.9118
Online Citation: Human Mutation, Mutation in Brief #589 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/589.pdf
- Issue published online: 19 MAR 2003
- Article first published online: 19 MAR 2003
- Manuscript Accepted: 6 DEC 2002
- Manuscript Received: 17 OCT 2002
- Cited By
- carbamylphosphate synthetase 1, CPS1;
Carbamylphosphate synthetase 1 (E.C. 188.8.131.52) deficiency is a rare autosomal recessive disorder of the urea cycle that can result in severe neonatal hyperammonemia. Since the genomic structure of the CPS1 gene was not yet elucidated, mutation detection was performed by analysis of transcripts in the past. Here, we present the entire DNA sequence of the human CPS1 gene including all exon-intron boundaries. Moreover, mutation analysis was performed in six patients leading to the detection of 9 novel mutations including the missense mutations c.2528T>C and c.2623A>G, the nonsense mutations c.712C>T and c.2115ins35bp, the splice site mutations c.1263+5G>C, c.3558+1G>C and c.4101+2T>C, and a small deletion c.3036_3038delGGT. The mutations c.2528T>C and c.2623A>G were identified on a double mutated allele. New data on the genomic structure of the CPS1 gene provided in this study are useful to characterize the heterogenous molecular basis of the disease in patients deficient for carbamylphosphate 1 deficiency. © 2003 Wiley-Liss, Inc.