A novel hearing loss-related mutation occurring in the GJB2 basal promoter
Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T,...
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| Veröffentlicht in: | Journal of medical genetics 2007-11, Vol.44 (11), p.721-725 |
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| container_title | Journal of medical genetics |
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| creator | Matos, T D Caria, H Simões-Teixeira, H Aasen, T Nickel, R Jagger, D J O’Neill, A Kelsell, D P Fialho, G |
| description | Mutations in the GJB2 gene are a major cause of non-syndromic recessive hearing loss in many countries. In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2. |
| doi_str_mv | 10.1136/jmg.2007.050682 |
| format | Article |
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In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.</description><identifier>ISSN: 0022-2593</identifier><identifier>ISSN: 1468-6244</identifier><identifier>EISSN: 1468-6244</identifier><identifier>DOI: 10.1136/jmg.2007.050682</identifier><identifier>PMID: 17660464</identifier><identifier>CODEN: JMDGAE</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adult ; Biological and medical sciences ; Cells, Cultured - metabolism ; Child ; Cloning ; Cochlea - metabolism ; Cochlea - physiopathology ; Connexin 26 ; Connexins - chemistry ; Connexins - genetics ; Connexins - physiology ; Cx26 ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Exons - genetics ; Female ; Fluorescent Dyes - metabolism ; Fundamental and applied biological sciences. Psychology ; Gap Junctions - genetics ; Gap Junctions - physiology ; General aspects. Genetic counseling ; Genes ; Genes, Reporter ; Genetics of eukaryotes. Biological and molecular evolution ; Genotype ; GJB2 ; Hearing loss ; Hearing Loss, Bilateral - genetics ; Hearing Loss, Sensorineural - genetics ; Humans ; Letter to JMG ; Medical genetics ; Medical sciences ; Molecular and cellular biology ; Mutation ; Mutation, Missense ; Non tumoral diseases ; Otorhinolaryngology. 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In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Cells, Cultured - metabolism</subject><subject>Child</subject><subject>Cloning</subject><subject>Cochlea - metabolism</subject><subject>Cochlea - physiopathology</subject><subject>Connexin 26</subject><subject>Connexins - chemistry</subject><subject>Connexins - genetics</subject><subject>Connexins - physiology</subject><subject>Cx26</subject><subject>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Fluorescent Dyes - metabolism</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Gap Junctions - genetics</subject><subject>Gap Junctions - physiology</subject><subject>General aspects. Genetic counseling</subject><subject>Genes</subject><subject>Genes, Reporter</subject><subject>Genetics of eukaryotes. Biological and molecular evolution</subject><subject>Genotype</subject><subject>GJB2</subject><subject>Hearing loss</subject><subject>Hearing Loss, Bilateral - genetics</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Humans</subject><subject>Letter to JMG</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Molecular and cellular biology</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Non tumoral diseases</subject><subject>Otorhinolaryngology. 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In a significant fraction of patients, only monoallelic GJB2 mutations known to be either recessive or of unclear pathogenicity are identified. This paper reports a novel GJB2 mutation, −3438C→T, found in the basal promoter of the gene, in trans with V84M, in a patient with profound hearing impairment. This novel mutation can abolish the basal promoter activity of GJB2. These results highlight the importance of extending the mutational screening to regions outside the coding region of GJB2.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>17660464</pmid><doi>10.1136/jmg.2007.050682</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | Journal of medical genetics, 2007-11, Vol.44 (11), p.721-725 |
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| source | MEDLINE; BMJ Journals - NESLi2; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central |
| subjects | Adult Biological and medical sciences Cells, Cultured - metabolism Child Cloning Cochlea - metabolism Cochlea - physiopathology Connexin 26 Connexins - chemistry Connexins - genetics Connexins - physiology Cx26 Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Exons - genetics Female Fluorescent Dyes - metabolism Fundamental and applied biological sciences. Psychology Gap Junctions - genetics Gap Junctions - physiology General aspects. Genetic counseling Genes Genes, Reporter Genetics of eukaryotes. Biological and molecular evolution Genotype GJB2 Hearing loss Hearing Loss, Bilateral - genetics Hearing Loss, Sensorineural - genetics Humans Letter to JMG Medical genetics Medical sciences Molecular and cellular biology Mutation Mutation, Missense Non tumoral diseases Otorhinolaryngology. Stomatology Pedigree Permeability Point Mutation Polymorphism, Single-Stranded Conformational promoter Promoter Regions, Genetic - genetics Studies |
| title | A novel hearing loss-related mutation occurring in the GJB2 basal promoter |
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