PubMed:11746015 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":18,"end":22},"obj":"gene:2706"},{"id":"T1","span":{"begin":59,"end":71},"obj":"disease:C0155552"},{"id":"T2","span":{"begin":0,"end":11},"obj":"gene:2706"},{"id":"T3","span":{"begin":59,"end":71},"obj":"disease:C0155552"},{"id":"T4","span":{"begin":551,"end":555},"obj":"gene:2706"},{"id":"T5","span":{"begin":592,"end":604},"obj":"disease:C0155552"},{"id":"T6","span":{"begin":509,"end":513},"obj":"gene:2706"},{"id":"T7","span":{"begin":444,"end":456},"obj":"disease:C0155552"},{"id":"T8","span":{"begin":420,"end":424},"obj":"gene:2706"},{"id":"T9","span":{"begin":444,"end":456},"obj":"disease:C0155552"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A--\u003eG mitochondrial mutation.\nWe report a high prevalence of GJB2 heterozygous mutations in patients bearing the 1555A--\u003eG mitochondrial mutation, and describe a family in which potential interaction between GJB2 and a mitochondrial gene appears to be the cause of hearing impairment. Patients who are heterozygotes for the GJB2 mutant allele show hearing loss more severe than that seen in sibs lacking a mutant GJB2 allele, suggesting that heterozygous GJB2 mutations may synergistically cause hearing loss when in the presence of a 1555A--\u003eG mutation. The present findings indicate that GJB2 mutations may sometimes be an aggravating factor, in addition to aminoglycoside antibiotics, in the phenotypic expression of the non-syndromic hearing loss associated with the 1555A--\u003eG mitochondrial mutation."}