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001-es BibID:BIBFORM006787
Első szerző:Peyvandi, Flora
Cím:Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency / Peyvandi, F., Tagliabue, L., Menegatti, M., Karimi, M., Komaromi, I., Katona, E., Muszbek, L., Mannucci, P. M.
Dátum:2004
ISSN:1059-7794
Megjegyzések:Factor XIII (FXIII) deficiency is a very rare severe autosomal bleeding disorder with a frequency of 1:2,000,000 in the general population and only a few patients have been genetically characterized so far. We report a phenotype-genotype characterization of 10 unrelated Iranian patients. Two FXIII (transglutaminase) activity assays showed no FXIII activity, except a conserved residual activity in patients receiving prophylactic substitution treatment. FXIII antigen concentrations measured by two immunoassays were comparable. Genotype characterization identified four novel mutations (2 missense and 2 small deletions) and two previously reported missense mutations in the FXIII A subunit gene (F13A). Molecular modeling was carried out to reveal the structural consequences of the missense mutations, that caused the replacement of an arginine residue involved in the formation of structurally important extensive hydrogen-bonded network. The replacements [c.320G>A (p.Arg77His) in the beta-sandwich, c.868C>T (p.Arg260Cys), c.869G>A (p.Arg260His) and c.1236G>T (p.Arg382Ser) in the core domain] resulted in the loss or impairment of such H-bonded network. Energy decomposition analysis demonstrated that this situation leads to the instability and perhaps to the incorrect folding of the A subunit, that would explain the development of severe FXIII deficiency.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adult
Child
Child, Preschool
DNA Mutational Analysis
Factor XIII
Factor XIII Deficiency
Female
Genotype
Humans
Male
Middle Aged
Models, Molecular
Mutation, Missense
Phenotype
Megjelenés:Human mutation. - 23 : 1 (2004), p. 98-107. -
További szerzők:Tagliabue, Liliana Menegatti, Marzia Karimi, Mehran Komáromi István (1957-) (vegyész, molekuláris biológus, biokémikus) Katona Éva (1961-) (klinikai biokémikus) Muszbek László (1942-) (haematológus, kutató orvos) Mannucci, Pier Mannuccio
Internet cím:elektronikus változat
DOI
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2.

001-es BibID:BIBFORM006803
Első szerző:Tóth Tímea (fül-orr-gégész)
Cím:GJB2 mutations in patients with non-syndromic hearing loss from Northeastern Hungary / Toth, T., Kupka, S., Haack, B., Riemann, K., Braun, S., Fazakas, F., Zenner, H. P., Muszbek, L., Blin, N., Pfister, M., Sziklai, I.
Dátum:2004
ISSN:1098-1004
Megjegyzések:Mutations in the GJB2 gene encoding the gap-junction protein connexin 26 have been identified in many patients with childhood hearing impairment (HI). One single mutation, c.35delG, accounts for the majority of mutations in Caucasian patients with HI. In the present study we screened 500 healthy control individuals and a group of patients with HI from Northeastern Hungary for GJB2 mutations. The patients' group consisted of 102 familial from 28 families and 92 non-familial cases. The most common mutation in the Hungarian population is the c.35delG, followed by the c.71G>A (p.W24X) mutation. 34.3% of the patients in the familial group were homozygous, and 17.6% heterozygous for 35delG. In the non-familial group the respective values were 37% and 18% (allele frequency: 46.2%). In the general population an allele frequency of 2.4% was determined. Several patients were identified with additional, already described or new GJB2 mutations, mostly in heterozygous state. The mutation c.380G>A (p.R127H) was formerly found only in heterozygous state and its disease relation was controversial. We demonstrated the presence of this mutation in a family with three homozygous patients and 4 heterozygous unaffected family members, a clear indication of recessively inherited HI. Furthermore, we provided evidence for the pathogenic role of two new mutations, c.51C>A (p.S17Y) and c.177G>T (p.G59V), detected in the present study. In the latter case the pattern of inheritance might be dominant. Our results confirm the importance of GJB2 mutations in the Hungarian population displaying mutation frequencies that are comparable with those in the Mediterranean area.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Adolescent
Adult
Aged
Child
Child, Preschool
Connexins
DNA Mutational Analysis
Female
Gene Frequency
Hearing Loss
Humans
Hungary
Infant
Male
Middle Aged
Mutation
Pedigree
Megjelenés:Human Mutation. - 23 : 6 (2004), p. 631-632. -
További szerzők:Kupka Zsuzsanna (fül-orr-gégész Németország) Haack, Birgit Riemann, Kathrin Braun, Simone Fazakas Ferenc (1969-) (molekuláris biológus) Zenner, Hans-Peter Muszbek László (1942-) (haematológus, kutató orvos) Blin, Nikolaus Pfister, Markus Sziklai István (1954-) (fül-orr-gégész)
Internet cím:elektronikus változat
DOI
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