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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)
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