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001-es BibID:BIBFORM039640
Első szerző:Pfister, Markus
Cím:A 4bp-insertion in the eya-homologous region (eyaHR) of EYA4 causes hearing impairment in a Hungarian family linked to DFNA10 / Markus Pfister, Tímea Tóth, Holger Thiele, Birgit Haack, Nikolaus Blin, Hans-Peter Zenner, István Sziklai, Peter Nürnberg, Susan Kupka
Dátum:2002
Megjegyzések:BACKGROUND: Hereditary hearing impairment (HHI) is a heterogeneous class of disorders that shows various patterns of inheritance and involves a multitude of different genes. Mutations in the EYA4 gene are responsible for postlingual, progressive, autosomal dominant hearing loss at the DFNA10 locus. EYA4 is orthologous to the Drosophila gene eya ("eyes absent"), a key regulator of eye formation. EYA4 plays an important role in several developmental processes. MATERIAL AND METHODS: Here we report a Hungarian family displaying sensorineural, progressive hearing impairment. The family comprising four generations with 11 affected and 8 unaffected members was subjected to genome-wide linkage analysis and candidate gene sequencing. RESULTS: By linkage analysis, the chromosomal region 6q22.3 was shown to segregate with the disease. Mutation analysis of the EYA4 gene, which maps to 6q22.3, revealed an insertion of 4 bp (1558insTTTG) in all affected family members. This insertion creates a frameshift and results in a stop codon at position 379. Hence, nearly the complete "eya homologous region" (eyaHR), which is essential for the protein function, would be deleted in the mutant EYA4 protein if the transcription were found to be stable. CONCLUSIONS: This family is the third one linked to DFNA10 and revealing a mutation in the EYA4 gene. In all three families, the mutations are localized in different regions of the eyaHR, suggesting that this protein contains several functional subregions with different tissue-specific importance.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
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Megjelenés:Molecular Medicine. - 8 : 10 (2002), p. 607-611. -
További szerzők:Thiele, Holger Haack, Birgit Blin, Nikolaus Zenner, Hans-Peter Nürnberg, Peter Kupka Zsuzsanna (fül-orr-gégész Németország) Tóth Tímea (1974-) (fül-orr-gégész) Sziklai István (1954-) (fül-orr-gégész)
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001-es BibID:BIBFORM040470
Első szerző:Zenner, Hans-Peter
Cím:Phänotypische Charakterisierung einer DFNA6-Familie mit Tieftonschwerhörigkeit / Zenner, H.-P., Sziklai, I., Pfister, M., Kupka, S., Nürnberg, P., Tóth, T., Thiele, H.
Dátum:2004
Megjegyzések:Background : Hereditary hearing impairment is a heterogeneous sensory defect with approximately two-thirds of all cases being nonsyndromic. Only two loci (DFNA1 and DFNA6/14/38) are associated with low frequency sensorineural nonsyndromic hearing impairment. DFNA6 was mapped to chromosome 4p16. Recessive mutations in the WFS1 gene are responsible for Wolfram syndrome; missense mutations inherited as an autosomal dominant result in low frequency sensorineural hearing impairment (LFSNHI). Patients and methods In this study we analyzed the phenotype of a large Hungarian family with LFSNHI and linkage to DFNA6. The family contains 14 affected persons. Results and conclusion In general, these patients show a postlingual, sensorineural, bilateral, symmetric, nonsyndromic low frequency hearing impairment with a slow progression. This impairment is accompanied by normal vision and normal vestibular responses.
Tárgyszavak:Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:HNO. - 52 : 2 (2004), p. 132-136. -
További szerzők:Sziklai István (1954-) (fül-orr-gégész) Pfister, Markus Kupka Zsuzsanna (fül-orr-gégész Németország) Nürnberg, Peter Tóth Tímea (1974-) (fül-orr-gégész) Thiele, Holger
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
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