Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
Screening for MYO15A gene mutations in autosomal recessive nonsyndromic, GJB2 negative Iranian deaf population.
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DOI：
10.1002/ajmg.a.34411
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发表时间：
2012-08
影响因子：
2
通讯作者：
Najmabadi, Hossein
中科院分区：
文献类型：
--
作者：
Fattahi, Zohreh;Shearer, A. Eliot;Babanejad, Mojgan;Bazazzadegan, Niloofar;Almadani, Seyed Navid;Nikzat, Nooshin;Jalalvand, Khadijeh;Arzhangi, Sanaz;Esteghamat, Fatemehsadat;Abtahi, Rezvan;Azadeh, Batool;Smith, Richard J. H.;Kahrizi, Kimia;Najmabadi, Hossein
MYO15A is located at the DFNB3 locus on chromosome 17p11.2, and encodes myosin-XV, an unconventional myosin critical for the formation of stereocilia in hair cells of cochlea. Recessive mutations in this gene lead to profound autosomal recessive nonsyndromic hearing loss (ARNSHL) in humans and the shaker2 (sh2) phenotype in mice. Here, we performed a study on 140 Iranian families in order to determine mutations causing ARNSHL. The families, who were negative for mutations in GJB2, were subjected to linkage analysis. Eight of these families showed linkage to the DFNB3 locus, suggesting a MYO15A mutation frequency of 5.71% in our cohort of Iranian population. Subsequent sequencing of the MYO15A gene led to identification of 7 previously unreported mutations, including 4 missense mutations, 1 nonsense mutation, and 2 deletions in different regions of the myosin-XV protein.
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影响因子：
56.9
作者：
Wang, AH;Liang, Y;Friedman, TB
通讯作者：
Friedman, TB
影响因子：
1.4
作者：
Cengiz, F. Basak;Duman, Duygu;Tekin, Mustafa
通讯作者：
Tekin, Mustafa
土耳其听力损失家庭中的 MY015A（DFNB3）突变和新型运动结构域突变的功能建模
影响因子：
2
作者：
Kalay, Ersan;Uzumcu, Abdullah;Kremer, Hannie
通讯作者：
Kremer, Hannie
影响因子：
2.6
作者：
Shearer, A. Eliot;Hildebrand, Michael S.;Webster, Jennifer A.;Kahrizi, Kimia;Meyer, Nicole C.;Jalalvand, Khadijeh;Arzhanginy, Sanaz;Kimberling, William J.;Stephan, Dietrich;Bahlo, Melanie;Smith, Richard J. H.;Najmabadi, Hossein
通讯作者：
Najmabadi, Hossein
影响因子：
5.2
作者：
Lezirovitz, Karina;Pardono, Eliete;Mingroni-Netto, Regina C.
通讯作者：
Mingroni-Netto, Regina C.