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Arfgeng heyrnarskerðing : leit að erfðabreytileikum í genum konnexíns 26 og POU3F4 hjá einstaklingum með meðfædda heyrnarskerðingu án tengsla við heilkenni

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Authors
Ísleifur Ólafsson
Gunnlaug Hjaltadóttir
Cook, Elizabeth
Hjalti Már Þórisson
Guðrún Eiríksdóttir
Hannes Petersen
Issue Date
2000-12-01

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Other Titles
Hereditary hearing impairment. Mutation analysis of connexin 26 and POU3F4 genes in Icelanders with nonsyndromic hearing impairment
Citation
Læknablaðið 2000, 86(12):833-39
Abstract
Aims: Mutations in the connexin 26 (Cx26) gene have recently been shown to be a major cause of hereditary nonsyndromic sensorineural hearing impairment in Caucasians. Studies indicate that approximately 10-30% of all childhood deafness are due to Cx26 mutations and the most frequently observed mutation is Cx26 35delG. Mutations in the POU3F4 are the most common cause of X-linked nonsyndromic hereditary hearing impairment. The aim of our study was to determine presence and type of Cx26 and POU3F4 mutations in an Icelandic cohort with nonsyndromic hearing impairment. Material and methods: All 15 individuals participating in the study, fulfilled the criteria of severe congenital nonsyndromic hearing impairment of unknown cause and the hearing loss was documented by audiologic testing in a clinical facility. Eleven had a family history and four were sporadic cases. All exons of the Cx26 and POU3F4 genes were amplified using PCR and six pairs of primers. The amplified DNA fragments were screened for sequence variations using enzymatic mutation detection and the nucleotide sequence of fragments showing signs of variation was determined. Results and conclusions: Using the methods described above four distinct sequence variations were detected in the Cx26 gene. The 35delG allele causing hereditary recessive hearing impairment was identified in one homozygous and one heterozygous individual. The heterozygous 35delG individual was also shown to carry the recessive allele 358-360delGAG (E). A missense mutation, 101Teth C (M34T), supposed to cause autosomal dominant form of hearing impairment with variable penetrance, was detected in one heterozygous individual. A novel sequence variation without known clinical significance, -63Teth G, was found in the 5'-noncoding sequence in one control sample. No mutations were detected in the POU3F4 gene.
Markmið: Nýlegar erlendar rannsóknir hafa sýnt að um 10-30% af alvarlegri heyrnarskerðingu hjá nýburum eru vegna erfðabreytileika í geni konnexíns 26 (Cx26) og er Cx26 35delG langalgengastur. Erfðabreytileikar í geni POU3F4 eru algengasta orsök arfgengrar heyrnarskerðingar, sem erfist kynbundið. Markmið þessarar rannsóknar var að ákvarða hvort og hvaða erfðabreytileikar í genum Cx26 og POU3F4 valdi meðfæddri heyrnarskerðingu án tengsla við heilkenni hjá íslenskum einstaklingum. Efniviður og aðferðir: Þátttakendur voru 15 einstaklingar, sem uppfylltu þau skilyrði að hafa verulega meðfædda heyrnarskerðingu af óþekktum toga, og að heyrnarskerðingin hafði verið staðfest með heyrnarmælingu. Ellefu einstaklingar höfðu fjölskyldusögu, en fjögur voru stök tilfelli. Allar útraðir Cx26 og POU3F4 gena voru magnaðar upp með fjölliðunarhvarfi og leitað var að erfðabreytileikum í þeim með svokallaðri EMD tækni. Niturbasaraðir þeirra útraða, sem sýndu merki um erfðabreytileika, voru síðan ákvarðaðar. Niðurstöður og ályktun: Með ofangreindum aðferðum greindust fjórir erfðabreytileikar í geni Cx26. Víkjandi samsætan Cx26 35delG fannst hjá einum arfhreinum og öðrum arfblendnum einstaklingi. Hjá arfblendna 35delG einstaklingnum fannst einnig þriggja basa brottfall 358-360delGAG (Δ119E), en sú samsæta er einnig víkjandi. Hjá einum arfblendum einstaklingi fundust niturbasaskipti, T verður C í stöðu 101 (M34T) og er talið að sá erfðabreytileiki valdi ríkjandi heyrnarskerðingu með breytilegri sýnd. Þá greindist áður óþekktur erfðabreytileiki í 5'-enda Cx26 gensins hjá einum einstaklingi með fulla heyrn, T verður G í stöðu -63, og er klínískt vægi hans óvisst. Engir erfðabreytileikar greindust í POU3F4 geni
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