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Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome

✍ Scribed by S. Salvi; C. Dionisi-Vici; E. Bertini; M. Verardo; F.M. Santorelli

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 122 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1221

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✦ Synopsis

Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified (Q89X, G27R, G190D, R275Q, c.861insG, c.164insA, and IVS5+1G→ → A). Other previously described variants were a heterozygous deletion of a phenylalanine residue (F188del) in one allele and the R179X in two. The G27R mutation was carried by two patients. Analyses of ORNT1 mRNA in four patients showed that mutant alleles were stable and of the predicted size. The current study expands the spectrum of mutations in ORNT1 gene.

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