Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome
Mutations in myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3...
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| Veröffentlicht in: | Human genetics 2001-11, Vol.109 (5), p.535-541 |
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| creator | LIBURD, Nikki GHOSH, Manju SMITH, Ann C. M CHEN, Ken-Shiung LUPSKI, James R WILCOX, Edward R POTOCKI, Lorraine FRIEDMAN, Thomas B RIAZUDDIN, Saima NAZ, Sadaf KHAN, Shaheen AHMED, Zubair RIAZUDDIN, Sheikh YONG LIANG MENON, Puthezhath S. N SMITH, Tenesha |
| description | Mutations in myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss. |
| doi_str_mv | 10.1007/s004390100604 |
| format | Article |
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M ; CHEN, Ken-Shiung ; LUPSKI, James R ; WILCOX, Edward R ; POTOCKI, Lorraine ; FRIEDMAN, Thomas B ; RIAZUDDIN, Saima ; NAZ, Sadaf ; KHAN, Shaheen ; AHMED, Zubair ; RIAZUDDIN, Sheikh ; YONG LIANG ; MENON, Puthezhath S. N ; SMITH, Tenesha</creator><creatorcontrib>LIBURD, Nikki ; GHOSH, Manju ; SMITH, Ann C. M ; CHEN, Ken-Shiung ; LUPSKI, James R ; WILCOX, Edward R ; POTOCKI, Lorraine ; FRIEDMAN, Thomas B ; RIAZUDDIN, Saima ; NAZ, Sadaf ; KHAN, Shaheen ; AHMED, Zubair ; RIAZUDDIN, Sheikh ; YONG LIANG ; MENON, Puthezhath S. N ; SMITH, Tenesha</creatorcontrib><description>Mutations in myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss.</description><identifier>ISSN: 0340-6717</identifier><identifier>EISSN: 1432-1203</identifier><identifier>DOI: 10.1007/s004390100604</identifier><identifier>PMID: 11735029</identifier><identifier>CODEN: HUGEDQ</identifier><language>eng</language><publisher>Heidelberg: Springer</publisher><subject>Abnormalities, Multiple - genetics ; Animals ; Base Sequence ; Biological and medical sciences ; Chromosomes, Human, Pair 17 ; Consanguinity ; Deafness - genetics ; DNA Primers ; Female ; Fundamental and applied biological sciences. Psychology ; Genetic Linkage ; Homozygote ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Mice ; Molecular and cellular biology ; Mutation, Missense ; Myosins - genetics ; Pedigree ; Syndrome</subject><ispartof>Human genetics, 2001-11, Vol.109 (5), p.535-541</ispartof><rights>2002 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-6a6af3f52a13bb6dc1924b74284a4348531b52cb5d381c2754da1a3d7bd2bd693</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14158955$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11735029$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>LIBURD, Nikki</creatorcontrib><creatorcontrib>GHOSH, Manju</creatorcontrib><creatorcontrib>SMITH, Ann C. 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N</creatorcontrib><creatorcontrib>SMITH, Tenesha</creatorcontrib><title>Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome</title><title>Human genetics</title><addtitle>Hum Genet</addtitle><description>Mutations in myosin XVA are responsible for the shaker 2 ( sh2) phenotype in mice and nonsyndromic autosomal recessive profound hearing loss DFNB3 on chromosome 17p11.2. We have ascertained seven families with profound congenital hearing loss from Pakistan and India with evidence of linkage to DFNB3 at 17p11.2. We report three novel homozygous mutations in MYO15A segregating in three of these families. In addition, one hemizygous missense mutation of MYO15A was found in one of eight Smith-Magenis syndrome (del(17)p11.2) patients from North America who had moderately severe sensorineural hearing loss.</description><subject>Abnormalities, Multiple - genetics</subject><subject>Animals</subject><subject>Base Sequence</subject><subject>Biological and medical sciences</subject><subject>Chromosomes, Human, Pair 17</subject><subject>Consanguinity</subject><subject>Deafness - genetics</subject><subject>DNA Primers</subject><subject>Female</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>Genetic Linkage</subject><subject>Homozygote</subject><subject>Humans</subject><subject>In Situ Hybridization, Fluorescence</subject><subject>Male</subject><subject>Mice</subject><subject>Molecular and cellular biology</subject><subject>Mutation, Missense</subject><subject>Myosins - genetics</subject><subject>Pedigree</subject><subject>Syndrome</subject><issn>0340-6717</issn><issn>1432-1203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkTtvFTEQhS1ERC6Bkha5gW6Jn7veMop4SXkUQEG1mrXHN0a79sXeDbp_J78Uw71SREUzM8V3zujoEPKKs3ecse68MKZkz-rdMvWEbLiSouGCyadkw6RiTdvx7pQ8L-UHY1z3Qj8jp5x3UjPRb8jDTbrHic7rAktIsdDk6fX3W64vKJSSbIAFHf0Vlju6y8mnNTrqEHzEUmiI1FYNxO0aIqa1UA9zmAIWCpWbk8Nc9dOeFrzHjPQOIYe4pVM6qIHu6luMy-HDl7nO5hq2GEOhZR9dTjO-ICcepoIvj_uMfPvw_uvlp-bq9uPny4urxkrTL00LLXjptQAux7F1lvdCjZ0SRoGSymjJRy3sqJ003IpOKwccpOtGJ0bX9vKMvD341qA_VyzLMIdicZrgb7ahE1L0Rqn_grwzxmjGKtgcQJtr4Ix-2OUwQ94PnA1_2hv-aa_yr4_G6zije6SPdVXgzRGAYmHyGaIN5ZFTXJtea_kbnW2kWg</recordid><startdate>20011101</startdate><enddate>20011101</enddate><creator>LIBURD, Nikki</creator><creator>GHOSH, Manju</creator><creator>SMITH, Ann C. 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| ispartof | Human genetics, 2001-11, Vol.109 (5), p.535-541 |
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| source | MEDLINE; SpringerLink Journals - AutoHoldings |
| subjects | Abnormalities, Multiple - genetics Animals Base Sequence Biological and medical sciences Chromosomes, Human, Pair 17 Consanguinity Deafness - genetics DNA Primers Female Fundamental and applied biological sciences. Psychology Genetic Linkage Homozygote Humans In Situ Hybridization, Fluorescence Male Mice Molecular and cellular biology Mutation, Missense Myosins - genetics Pedigree Syndrome |
| title | Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome |
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