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Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A > G in exon 8 (p.Met268Val)
Affiliations- Klinika Pediatrii i Neurologii Wieku Rozwojowego, Śląski Uniwersytet Medyczny w Katowicach
- Zakład Fizyki Medycznej, Instytut Onkologii w Gliwicach
- Katedra Pediatrii, Zakład Genetyki Medycznej, Uniwersytet Jagielloński, Collegium Medicum, Wielicka 265, 30663 Kraków, Poland
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Abstract
Ornithine transcarbamylase (OTC) deficiency, an X-linked, semidominant disorder, is the most common inherited defect in ureagenesis, resulting in hyperammonaemia type II. The OTC gene, localised on chromosome X, has been mapped to band Xp21.1, proximate to the Duchenne muscular dystrophy (DMD) gene. More than 350 different mutations, including missense, nonsense, splice-site changes, small deletions or insertions and gross deletions, have been described so far. Almost all mutations in consensus splicing sites confer a neonatal phenotype. Most mutations in the OTC gene are ‘private’ and are distributed throughout the gene with a paucity of mutation in the sequence encoding the leader peptide (exon 1 and beginning of exon 2) and in exon 7. They have familial origin or occur de novo. Even with sequencing of the entire reading frame and exon/intron boundaries, only about 80% of the mutations are detected in patients with proven OTC deficiency. The remainder probably occur within the introns or in regulatory domains. The authors present a 4-year-old boy with the unreported missense mutation c.802A>G. The nucleotide transition leads to amino acid substitution Met to Val at codon 268 of the OTC protein.
Abstract
Ornithine transcarbamylase (OTC) deficiency, an X-linked, semidominant disorder, is the most common inherited defect in ureagenesis, resulting in hyperammonaemia type II. The OTC gene, localised on chromosome X, has been mapped to band Xp21.1, proximate to the Duchenne muscular dystrophy (DMD) gene. More than 350 different mutations, including missense, nonsense, splice-site changes, small deletions or insertions and gross deletions, have been described so far. Almost all mutations in consensus splicing sites confer a neonatal phenotype. Most mutations in the OTC gene are ‘private’ and are distributed throughout the gene with a paucity of mutation in the sequence encoding the leader peptide (exon 1 and beginning of exon 2) and in exon 7. They have familial origin or occur de novo. Even with sequencing of the entire reading frame and exon/intron boundaries, only about 80% of the mutations are detected in patients with proven OTC deficiency. The remainder probably occur within the introns or in regulatory domains. The authors present a 4-year-old boy with the unreported missense mutation c.802A>G. The nucleotide transition leads to amino acid substitution Met to Val at codon 268 of the OTC protein.
Keywords
novel mutation c.802A& gt; G in exon 8, ornithine transcarbamylase deficiency, brain spectroscopy, children
About this articleTitle
Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A>G in exon 8 (p.Met268Val)
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
283-289
Page views
587
Article views/downloads
330
DOI
10.5114/ninp.2013.35488
Bibliographic record
Neurol Neurochir Pol 2013;47(3):283-289.
Keywords
novel mutation c.802A>
G in exon 8
ornithine transcarbamylase deficiency
brain spectroscopy
children
Authors
Ewa Jamroz
Justyna Paprocka
Maria Sokół
Ewa Popowska
Elżbieta Ciara
