open access

Vol 47, No 3 (2013)
OPIS PRZYPADKU
Submitted: 2011-04-24
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Magnetic resonance spectroscopy and molecular studies in ornithine transcarbamylase deficiency novel mutation c.802A > G in exon 8 (p.Met268Val)

Ewa Jamroz, Justyna Paprocka, Maria Sokół, Ewa Popowska, Elżbieta Ciara
DOI: 10.5114/ninp.2013.35488
·
Neurol Neurochir Pol 2013;47(3):283-289.

open access

Vol 47, No 3 (2013)
OPIS PRZYPADKU
Submitted: 2011-04-24

Abstract

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

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.

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Keywords

novel mutation c.802A& gt; G in exon 8, ornithine transcarbamylase deficiency, brain spectroscopy, children

About this article
Title

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

Vol 47, No 3 (2013)

Pages

283-289

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

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