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A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations
The aim of this work was to study the genotype distribution of Sicilian patients with biallelic GJB2 mutations; to correlate genotype classes and/or specific mutations of GJB2 gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenc...
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| Published in: | European archives of oto-rhino-laryngology 2015-08, Vol.272 (8), p.1857-1865 |
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| cites | cdi_FETCH-LOGICAL-c414t-bad098035f65cd5d0f01d88aa2c96bec40c3723a19f7b7da63967cbeb1495453 |
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| container_title | European archives of oto-rhino-laryngology |
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| creator | Martines, Francesco Salvago, Pietro Bartolotta, Caterina Cocuzza, Salvatore Fabiano, Carmelo Ferrara, Sergio La Mattina, Eleonora Mucia, Marianna Sammarco, Pietro Sireci, Federico Martines, Enrico |
| description | The aim of this work was to study the genotype distribution of Sicilian patients with biallelic
GJB2
mutations; to correlate genotype classes and/or specific mutations of
GJB2
gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of the subjects (
P
= 0.727). The homozygous truncating (T/T) genotype was the most widespread (89.04 % of cases), with a severe-to-profound hearing impairment in 90.36 % of T/T class with respect to truncating/non-truncating (T/NT) and non-truncating/non-truncating (NT/NT) genotypes (
P
= 0.012). From the comparison of homozygous 35delG and 35delG/non-35delG genotypes, a more profound HL in the homozygous 35delG than in compound heterozygous 35delG/non-35delG (
p
|
| doi_str_mv | 10.1007/s00405-014-2970-1 |
| format | article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1690210136</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>1690210136</sourcerecordid><originalsourceid>FETCH-LOGICAL-c414t-bad098035f65cd5d0f01d88aa2c96bec40c3723a19f7b7da63967cbeb1495453</originalsourceid><addsrcrecordid>eNp9kLtOwzAUhi0EoqXwACzII0vg-JK4HguCAqrEQJktx3FaV7lhJ0LdeAfekCchJYWR6VjH3_9L50PonMAVARDXAYBDHAHhEZUCInKAxoQzHnFBk0M0BslExLkQI3QSwgYAYi7ZMRpRnlABgo_R6wyvbFW328Z-fXw26_0bm9p7W-jW1RV2FX5xxhVOV7jpV7ZqA3537RrPn24oTp0uCls4g8uu_UmEU3SU6yLYs_2coOX93fL2IVo8zx9vZ4vIcMLbKNUZyCmwOE9ik8UZ5ECy6VRramSSWsPBMEGZJjIXqch0wmQiTGpTwmXMYzZBl0Nt4-u3zoZWlS4YWxS6snUXFEkkUAKEJT1KBtT4OgRvc9V4V2q_VQTUTqYaZKpeptrJVKTPXOzru7S02V_i114P0AEI_Ve1sl5t6s5X_cX_tH4D87WArA</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1690210136</pqid></control><display><type>article</type><title>A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations</title><source>Springer Link</source><creator>Martines, Francesco ; Salvago, Pietro ; Bartolotta, Caterina ; Cocuzza, Salvatore ; Fabiano, Carmelo ; Ferrara, Sergio ; La Mattina, Eleonora ; Mucia, Marianna ; Sammarco, Pietro ; Sireci, Federico ; Martines, Enrico</creator><creatorcontrib>Martines, Francesco ; Salvago, Pietro ; Bartolotta, Caterina ; Cocuzza, Salvatore ; Fabiano, Carmelo ; Ferrara, Sergio ; La Mattina, Eleonora ; Mucia, Marianna ; Sammarco, Pietro ; Sireci, Federico ; Martines, Enrico</creatorcontrib><description>The aim of this work was to study the genotype distribution of Sicilian patients with biallelic
GJB2
mutations; to correlate genotype classes and/or specific mutations of
GJB2
gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of the subjects (
P
= 0.727). The homozygous truncating (T/T) genotype was the most widespread (89.04 % of cases), with a severe-to-profound hearing impairment in 90.36 % of T/T class with respect to truncating/non-truncating (T/NT) and non-truncating/non-truncating (NT/NT) genotypes (
P
= 0.012). From the comparison of homozygous 35delG and 35delG/non-35delG genotypes, a more profound HL in the homozygous 35delG than in compound heterozygous 35delG/non-35delG (
p
< 0.0001) resulted. This study confirms that 35delG is the most common mutation in the Mediterranean area with a heterogeneous distribution of the genotypes between North and South Sicily; probands homozygotes for 35delG or presenting a T/T genotype are more apt to have a severe-to-profound HL.</description><identifier>ISSN: 0937-4477</identifier><identifier>EISSN: 1434-4726</identifier><identifier>DOI: 10.1007/s00405-014-2970-1</identifier><identifier>PMID: 24627074</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Audiometry - methods ; Child ; Child, Preschool ; Connexin 26 ; Connexins - genetics ; Deafness - diagnosis ; Deafness - epidemiology ; Deafness - genetics ; Female ; Genetic Association Studies ; Genotype ; Head and Neck Surgery ; Hearing Loss - genetics ; Hearing Loss, Sensorineural - diagnosis ; Hearing Loss, Sensorineural - epidemiology ; Hearing Loss, Sensorineural - genetics ; Humans ; Male ; Medicine ; Medicine & Public Health ; Mutation ; Neurosurgery ; Otology ; Otorhinolaryngology ; Severity of Illness Index ; Sicily - epidemiology ; Young Adult</subject><ispartof>European archives of oto-rhino-laryngology, 2015-08, Vol.272 (8), p.1857-1865</ispartof><rights>Springer-Verlag Berlin Heidelberg 2014</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c414t-bad098035f65cd5d0f01d88aa2c96bec40c3723a19f7b7da63967cbeb1495453</citedby><cites>FETCH-LOGICAL-c414t-bad098035f65cd5d0f01d88aa2c96bec40c3723a19f7b7da63967cbeb1495453</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,783,787,27936,27937</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24627074$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Martines, Francesco</creatorcontrib><creatorcontrib>Salvago, Pietro</creatorcontrib><creatorcontrib>Bartolotta, Caterina</creatorcontrib><creatorcontrib>Cocuzza, Salvatore</creatorcontrib><creatorcontrib>Fabiano, Carmelo</creatorcontrib><creatorcontrib>Ferrara, Sergio</creatorcontrib><creatorcontrib>La Mattina, Eleonora</creatorcontrib><creatorcontrib>Mucia, Marianna</creatorcontrib><creatorcontrib>Sammarco, Pietro</creatorcontrib><creatorcontrib>Sireci, Federico</creatorcontrib><creatorcontrib>Martines, Enrico</creatorcontrib><title>A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations</title><title>European archives of oto-rhino-laryngology</title><addtitle>Eur Arch Otorhinolaryngol</addtitle><addtitle>Eur Arch Otorhinolaryngol</addtitle><description>The aim of this work was to study the genotype distribution of Sicilian patients with biallelic
GJB2
mutations; to correlate genotype classes and/or specific mutations of
GJB2
gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of the subjects (
P
= 0.727). The homozygous truncating (T/T) genotype was the most widespread (89.04 % of cases), with a severe-to-profound hearing impairment in 90.36 % of T/T class with respect to truncating/non-truncating (T/NT) and non-truncating/non-truncating (NT/NT) genotypes (
P
= 0.012). From the comparison of homozygous 35delG and 35delG/non-35delG genotypes, a more profound HL in the homozygous 35delG than in compound heterozygous 35delG/non-35delG (
p
< 0.0001) resulted. This study confirms that 35delG is the most common mutation in the Mediterranean area with a heterogeneous distribution of the genotypes between North and South Sicily; probands homozygotes for 35delG or presenting a T/T genotype are more apt to have a severe-to-profound HL.</description><subject>Audiometry - methods</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Connexin 26</subject><subject>Connexins - genetics</subject><subject>Deafness - diagnosis</subject><subject>Deafness - epidemiology</subject><subject>Deafness - genetics</subject><subject>Female</subject><subject>Genetic Association Studies</subject><subject>Genotype</subject><subject>Head and Neck Surgery</subject><subject>Hearing Loss - genetics</subject><subject>Hearing Loss, Sensorineural - diagnosis</subject><subject>Hearing Loss, Sensorineural - epidemiology</subject><subject>Hearing Loss, Sensorineural - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Mutation</subject><subject>Neurosurgery</subject><subject>Otology</subject><subject>Otorhinolaryngology</subject><subject>Severity of Illness Index</subject><subject>Sicily - epidemiology</subject><subject>Young Adult</subject><issn>0937-4477</issn><issn>1434-4726</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><recordid>eNp9kLtOwzAUhi0EoqXwACzII0vg-JK4HguCAqrEQJktx3FaV7lhJ0LdeAfekCchJYWR6VjH3_9L50PonMAVARDXAYBDHAHhEZUCInKAxoQzHnFBk0M0BslExLkQI3QSwgYAYi7ZMRpRnlABgo_R6wyvbFW328Z-fXw26_0bm9p7W-jW1RV2FX5xxhVOV7jpV7ZqA3537RrPn24oTp0uCls4g8uu_UmEU3SU6yLYs_2coOX93fL2IVo8zx9vZ4vIcMLbKNUZyCmwOE9ik8UZ5ECy6VRramSSWsPBMEGZJjIXqch0wmQiTGpTwmXMYzZBl0Nt4-u3zoZWlS4YWxS6snUXFEkkUAKEJT1KBtT4OgRvc9V4V2q_VQTUTqYaZKpeptrJVKTPXOzru7S02V_i114P0AEI_Ve1sl5t6s5X_cX_tH4D87WArA</recordid><startdate>20150801</startdate><enddate>20150801</enddate><creator>Martines, Francesco</creator><creator>Salvago, Pietro</creator><creator>Bartolotta, Caterina</creator><creator>Cocuzza, Salvatore</creator><creator>Fabiano, Carmelo</creator><creator>Ferrara, Sergio</creator><creator>La Mattina, Eleonora</creator><creator>Mucia, Marianna</creator><creator>Sammarco, Pietro</creator><creator>Sireci, Federico</creator><creator>Martines, Enrico</creator><general>Springer Berlin Heidelberg</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20150801</creationdate><title>A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations</title><author>Martines, Francesco ; Salvago, Pietro ; Bartolotta, Caterina ; Cocuzza, Salvatore ; Fabiano, Carmelo ; Ferrara, Sergio ; La Mattina, Eleonora ; Mucia, Marianna ; Sammarco, Pietro ; Sireci, Federico ; Martines, Enrico</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c414t-bad098035f65cd5d0f01d88aa2c96bec40c3723a19f7b7da63967cbeb1495453</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Audiometry - methods</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Connexin 26</topic><topic>Connexins - genetics</topic><topic>Deafness - diagnosis</topic><topic>Deafness - epidemiology</topic><topic>Deafness - genetics</topic><topic>Female</topic><topic>Genetic Association Studies</topic><topic>Genotype</topic><topic>Head and Neck Surgery</topic><topic>Hearing Loss - genetics</topic><topic>Hearing Loss, Sensorineural - diagnosis</topic><topic>Hearing Loss, Sensorineural - epidemiology</topic><topic>Hearing Loss, Sensorineural - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Mutation</topic><topic>Neurosurgery</topic><topic>Otology</topic><topic>Otorhinolaryngology</topic><topic>Severity of Illness Index</topic><topic>Sicily - epidemiology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Martines, Francesco</creatorcontrib><creatorcontrib>Salvago, Pietro</creatorcontrib><creatorcontrib>Bartolotta, Caterina</creatorcontrib><creatorcontrib>Cocuzza, Salvatore</creatorcontrib><creatorcontrib>Fabiano, Carmelo</creatorcontrib><creatorcontrib>Ferrara, Sergio</creatorcontrib><creatorcontrib>La Mattina, Eleonora</creatorcontrib><creatorcontrib>Mucia, Marianna</creatorcontrib><creatorcontrib>Sammarco, Pietro</creatorcontrib><creatorcontrib>Sireci, Federico</creatorcontrib><creatorcontrib>Martines, Enrico</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European archives of oto-rhino-laryngology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Martines, Francesco</au><au>Salvago, Pietro</au><au>Bartolotta, Caterina</au><au>Cocuzza, Salvatore</au><au>Fabiano, Carmelo</au><au>Ferrara, Sergio</au><au>La Mattina, Eleonora</au><au>Mucia, Marianna</au><au>Sammarco, Pietro</au><au>Sireci, Federico</au><au>Martines, Enrico</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations</atitle><jtitle>European archives of oto-rhino-laryngology</jtitle><stitle>Eur Arch Otorhinolaryngol</stitle><addtitle>Eur Arch Otorhinolaryngol</addtitle><date>2015-08-01</date><risdate>2015</risdate><volume>272</volume><issue>8</issue><spage>1857</spage><epage>1865</epage><pages>1857-1865</pages><issn>0937-4477</issn><eissn>1434-4726</eissn><abstract>The aim of this work was to study the genotype distribution of Sicilian patients with biallelic
GJB2
mutations; to correlate genotype classes and/or specific mutations of
GJB2
gene (35delG–non-35delG) with audiologic profiles. A total of 10 different mutations and 11 different genotypes were evidenced in 73 SNHL subjects; 35delG (90.36 % of cases) and IVS1+1 (13.69 %) were the most common mutations found in the cohort with a significant difference in the distribution between North and South Sicily. Audiological evaluation revealed a severe (16/73) to profound (47/73) hearing loss (HL) in 86.13 % of cases without significant difference between the degree of HL and the province of origin of the subjects (
P
= 0.727). The homozygous truncating (T/T) genotype was the most widespread (89.04 % of cases), with a severe-to-profound hearing impairment in 90.36 % of T/T class with respect to truncating/non-truncating (T/NT) and non-truncating/non-truncating (NT/NT) genotypes (
P
= 0.012). From the comparison of homozygous 35delG and 35delG/non-35delG genotypes, a more profound HL in the homozygous 35delG than in compound heterozygous 35delG/non-35delG (
p
< 0.0001) resulted. This study confirms that 35delG is the most common mutation in the Mediterranean area with a heterogeneous distribution of the genotypes between North and South Sicily; probands homozygotes for 35delG or presenting a T/T genotype are more apt to have a severe-to-profound HL.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>24627074</pmid><doi>10.1007/s00405-014-2970-1</doi><tpages>9</tpages></addata></record> |
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| subjects | Audiometry - methods Child Child, Preschool Connexin 26 Connexins - genetics Deafness - diagnosis Deafness - epidemiology Deafness - genetics Female Genetic Association Studies Genotype Head and Neck Surgery Hearing Loss - genetics Hearing Loss, Sensorineural - diagnosis Hearing Loss, Sensorineural - epidemiology Hearing Loss, Sensorineural - genetics Humans Male Medicine Medicine & Public Health Mutation Neurosurgery Otology Otorhinolaryngology Severity of Illness Index Sicily - epidemiology Young Adult |
| title | A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations |
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