التفاصيل البيبلوغرافية
| العنوان: |
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families. |
| المؤلفون: |
Storkanova, G, Vlaskova, H, Chuzhanova, N, Zeman, J, Stranecky, V, Majer, F, Peskova, K, Luksan, O, Jirsa, M, Hrebicek, M, Dvorakova, L |
| المصدر: |
Clinical Genetics; Dec2013, Vol. 84 Issue 6, p552-559, 8p |
| مصطلحات موضوعية: |
ORNITHINE carbamoyltransferase deficiency, UREA, EXONS (Genetics), GENETIC carriers, MISSENSE mutation |
| مستخلص: |
Ornithine carbamoyltransferase deficiency is the most common inherited defect of the urea cycle. We examined 28 male and 9 female patients from 29 families and identified 25 distinct mutations in OTC, 14 of which were novel. Three novel missense mutations (p. Ala102Pro, p. Pro158Ser, p. Lys210Glu) and a novel deletion of the Leu43 are not directly involved either in the enzyme active site or in the intersubunit interactions; however, the mutations include conserved residues involved in intramolecular interaction network essential for the function of the enzyme. Three novel large deletions - a 444 kb deletion affecting RPGR, OTC and TSPAN7, a 10 kb-deletion encompassing OTC exons 5 and 6 and a 24.5 kb-deletion encompassing OTC exons 9 and 10 - have probably been initiated by double strand breaks at recombination-promoting motifs with subsequent non-homologous end joining repair. Finally, we present a manifesting heterozygote carrying a hypomorphic mutation p. Arg129His in combination with unfavorably skewed X-inactivation in three peripheral tissues. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
Complementary Index |
