Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon
Autore:
Ploechl, E; Ploechl, W; Stoeckler-Ipsiroglu, S; Pokorny, H; Wermuth, B;
Indirizzi:
St Johanns Hosp, Childrens Hosp, A-5020 Salzburg, Austria St Johanns HospSalzburg Austria A-5020 s Hosp, A-5020 Salzburg, Austria Univ Vienna, Dept Anaesthesiol & Gen Intens Care, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 en Intens Care, A-1010 Vienna, Austria Univ Vienna, Dept Pediat, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 a, Dept Pediat, A-1010 Vienna, Austria Univ Vienna, Dept Transplant Surg, A-1010 Vienna, Austria Univ Vienna Vienna Austria A-1010 ransplant Surg, A-1010 Vienna, Austria Univ Bern, Inselspital, Dept Clin Chem, CH-3010 Bern, Switzerland Univ Bern Bern Switzerland CH-3010 Clin Chem, CH-3010 Bern, Switzerland
Titolo Testata:
CLINICAL GENETICS
fascicolo: 2, volume: 59, anno: 2001,
pagine: 111 - 114
SICI:
0009-9163(200102)59:2<111:LOTDIT>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE;
Keywords:
genotype-phenotype comparison; late-onset OTC deficiency; mutation in the same codon; substitutions of different bases;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
11
Recensione:
Indirizzi per estratti:
Indirizzo: Ploechl, E St Johanns Hosp, Childrens Hosp, Mullner Hauptstr 48, A-5020 Salzburg, Austria St Johanns Hosp Mullner Hauptstr 48 Salzburg Austria A-5020 ia
Citazione:
E. Ploechl et al., "Late-onset ornithine transcarbamylase deficiency in two families with different mutations in the same codon", CLIN GENET, 59(2), 2001, pp. 111-114

Abstract

We report on late-onset ornithine transcarbamylase (OTC) deficiency in twofamilies with mutations in the same codon, but different base substitutions. Onset of symptoms showed great variation, and five hemizygotes finally died. Clinical diagnosis was late and difficult. In family A, 1 patient also developed the signs of Gilbert's disease. In family B, the index case came to attention as OTC deficiency, after the transplantation of his liver when the recipient died of cerebral edema and hyperammonemia. In family A, the hemizygote males died at the ages of 12 and 18years; in family B, they died at the ages of 20, 26, and 30 years, respectively. Diagnosis was confirmed by reduced OTC activity in liver specimens. The residual activity in autopsy liver of the index patient in family A wasless than the activity in the biopsy of the transplanted liver of the index patient in family B. The molecular investigations showed mutations in exon 2 at codon 40 in the OTC gene in both families. However, different bases were substituted. In family A, the single-base mutation was a cytosine-to-thymine transition (Arg 40 Cys); in family B, it was a guanine-to-adenine transition (Arg 40 His). Published data on in vitro expression studies of the recurrent OTC mutation Arg 40 His have shown little effect on the protein structure of the enzyme. These studies would fit well with our observation of higher OTC activityand later age of onset of symptoms in family B.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/09/20 alle ore 23:32:59