Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma
Summary Mutations in the gap‐junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin‐related anomalies. Genome‐wide analys...
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| Veröffentlicht in: | Annals of human genetics 2016-01, Vol.80 (1), p.11-19 |
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| container_title | Annals of human genetics |
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| creator | Pandey, Nishtha Xavier, Dennis F. Chatterjee, Arunima Mani, Ram‐Shankar Hiremagalore, Ravi Tharakan, Ajith Rajashekhar, B. Anand, Anuranjan |
| description | Summary
Mutations in the gap‐junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin‐related anomalies. Genome‐wide analysis of the family showed that the locus maps to chromosome region 13ptel‐q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild‐type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap‐junction activity. |
| doi_str_mv | 10.1111/ahg.12141 |
| format | Article |
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Mutations in the gap‐junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin‐related anomalies. Genome‐wide analysis of the family showed that the locus maps to chromosome region 13ptel‐q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild‐type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap‐junction activity.</description><identifier>ISSN: 0003-4800</identifier><identifier>EISSN: 1469-1809</identifier><identifier>DOI: 10.1111/ahg.12141</identifier><identifier>PMID: 26620415</identifier><identifier>CODEN: ANHGAA</identifier><language>eng</language><publisher>England: Wiley Subscription Services, Inc</publisher><subject>Biotin - analogs & derivatives ; Biotin - metabolism ; Connexin 30 ; Connexin30 ; Connexins - genetics ; cutaneous nodules ; DNA Mutational Analysis ; Female ; gap junction ; Genetic Linkage ; Hearing loss ; Hearing Loss, Sensorineural - genetics ; Humans ; ichthyosis ; Ichthyosis - genetics ; Keratoderma, Palmoplantar, Diffuse - genetics ; Male ; Mutation ; neurobiotin ; palmoplantar keratoderma ; Pedigree ; Phenotype ; sensorineural hearing loss ; Skin Diseases, Genetic - genetics</subject><ispartof>Annals of human genetics, 2016-01, Vol.80 (1), p.11-19</ispartof><rights>2015 John Wiley & Sons Ltd/University College London</rights><rights>2015 John Wiley & Sons Ltd/University College London.</rights><rights>Copyright © 2015 John Wiley & Sons Ltd/University College London</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4221-c09bc58c0e4eaa7c272de6967fbce7a3d833dd22507f63afe69f24a4cfbb19db3</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fahg.12141$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fahg.12141$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27923,27924,45573,45574,46408,46832</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26620415$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Pandey, Nishtha</creatorcontrib><creatorcontrib>Xavier, Dennis F.</creatorcontrib><creatorcontrib>Chatterjee, Arunima</creatorcontrib><creatorcontrib>Mani, Ram‐Shankar</creatorcontrib><creatorcontrib>Hiremagalore, Ravi</creatorcontrib><creatorcontrib>Tharakan, Ajith</creatorcontrib><creatorcontrib>Rajashekhar, B.</creatorcontrib><creatorcontrib>Anand, Anuranjan</creatorcontrib><title>Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma</title><title>Annals of human genetics</title><addtitle>Ann Hum Genet</addtitle><description>Summary
Mutations in the gap‐junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin‐related anomalies. Genome‐wide analysis of the family showed that the locus maps to chromosome region 13ptel‐q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild‐type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap‐junction activity.</description><subject>Biotin - analogs & derivatives</subject><subject>Biotin - metabolism</subject><subject>Connexin 30</subject><subject>Connexin30</subject><subject>Connexins - genetics</subject><subject>cutaneous nodules</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>gap junction</subject><subject>Genetic Linkage</subject><subject>Hearing loss</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Humans</subject><subject>ichthyosis</subject><subject>Ichthyosis - genetics</subject><subject>Keratoderma, Palmoplantar, Diffuse - genetics</subject><subject>Male</subject><subject>Mutation</subject><subject>neurobiotin</subject><subject>palmoplantar keratoderma</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>sensorineural hearing loss</subject><subject>Skin Diseases, Genetic - genetics</subject><issn>0003-4800</issn><issn>1469-1809</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkc1u1DAUhS0EokNhwQsgS2xYNO31T2xnORoxnarDzwLWkWM7M64Se4gTSh6DN66nU1iwwgv7yOfT0dU9CL0lcEnyudL73SWhhJNnaEG4qAqioHqOFgDACq4AztCrlO4ACFWcvURnVAgKnJQL9Hs9BTP6GHSHl_mak084tljjz_Gn6_AqhuB--cAAf5pGfSSxD9ne6mHn8Fr3vpvxvR_3eOP04MMOb2NKF_irS4dOhynLG7Mf93PMyRd4lUOCi1PK-XbqXP7SweJbN-gxWjf0-jV60eouuTdP7zn6vv74bbUptl-ub1bLbWE4paQwUDWmVAYcd1pLQyW1TlRCto1xUjOrGLOW0hJkK5hus9dSrrlpm4ZUtmHn6MMp9zDEH5NLY937ZFzXneariZRC8BIE-Q9UgFJSUJXR9_-gd3Ea8mKPVClBQcYy9e6Jmpre2fow-F4Pc_2nlwxcnYB737n5r0-gPhZe58Lrx8Lr5eb6UbAH7JedJg</recordid><startdate>201601</startdate><enddate>201601</enddate><creator>Pandey, Nishtha</creator><creator>Xavier, Dennis F.</creator><creator>Chatterjee, Arunima</creator><creator>Mani, Ram‐Shankar</creator><creator>Hiremagalore, Ravi</creator><creator>Tharakan, Ajith</creator><creator>Rajashekhar, B.</creator><creator>Anand, Anuranjan</creator><general>Wiley Subscription Services, Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201601</creationdate><title>Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma</title><author>Pandey, Nishtha ; Xavier, Dennis F. ; Chatterjee, Arunima ; Mani, Ram‐Shankar ; Hiremagalore, Ravi ; Tharakan, Ajith ; Rajashekhar, B. ; Anand, Anuranjan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4221-c09bc58c0e4eaa7c272de6967fbce7a3d833dd22507f63afe69f24a4cfbb19db3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Biotin - analogs & derivatives</topic><topic>Biotin - metabolism</topic><topic>Connexin 30</topic><topic>Connexin30</topic><topic>Connexins - genetics</topic><topic>cutaneous nodules</topic><topic>DNA Mutational Analysis</topic><topic>Female</topic><topic>gap junction</topic><topic>Genetic Linkage</topic><topic>Hearing loss</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Humans</topic><topic>ichthyosis</topic><topic>Ichthyosis - genetics</topic><topic>Keratoderma, Palmoplantar, Diffuse - genetics</topic><topic>Male</topic><topic>Mutation</topic><topic>neurobiotin</topic><topic>palmoplantar keratoderma</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>sensorineural hearing loss</topic><topic>Skin Diseases, Genetic - genetics</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pandey, Nishtha</creatorcontrib><creatorcontrib>Xavier, Dennis F.</creatorcontrib><creatorcontrib>Chatterjee, Arunima</creatorcontrib><creatorcontrib>Mani, Ram‐Shankar</creatorcontrib><creatorcontrib>Hiremagalore, Ravi</creatorcontrib><creatorcontrib>Tharakan, Ajith</creatorcontrib><creatorcontrib>Rajashekhar, B.</creatorcontrib><creatorcontrib>Anand, Anuranjan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Annals of human genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Pandey, Nishtha</au><au>Xavier, Dennis F.</au><au>Chatterjee, Arunima</au><au>Mani, Ram‐Shankar</au><au>Hiremagalore, Ravi</au><au>Tharakan, Ajith</au><au>Rajashekhar, B.</au><au>Anand, Anuranjan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma</atitle><jtitle>Annals of human genetics</jtitle><addtitle>Ann Hum Genet</addtitle><date>2016-01</date><risdate>2016</risdate><volume>80</volume><issue>1</issue><spage>11</spage><epage>19</epage><pages>11-19</pages><issn>0003-4800</issn><eissn>1469-1809</eissn><coden>ANHGAA</coden><abstract>Summary
Mutations in the gap‐junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin‐related anomalies. Genome‐wide analysis of the family showed that the locus maps to chromosome region 13ptel‐q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild‐type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap‐junction activity.</abstract><cop>England</cop><pub>Wiley Subscription Services, Inc</pub><pmid>26620415</pmid><doi>10.1111/ahg.12141</doi><tpages>9</tpages></addata></record> |
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| subjects | Biotin - analogs & derivatives Biotin - metabolism Connexin 30 Connexin30 Connexins - genetics cutaneous nodules DNA Mutational Analysis Female gap junction Genetic Linkage Hearing loss Hearing Loss, Sensorineural - genetics Humans ichthyosis Ichthyosis - genetics Keratoderma, Palmoplantar, Diffuse - genetics Male Mutation neurobiotin palmoplantar keratoderma Pedigree Phenotype sensorineural hearing loss Skin Diseases, Genetic - genetics |
| title | Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma |
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