Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss
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{"title"=>"Identification of a novel MYO15A mutation in a Chinese family with autosomal recessive nonsyndromic hearing loss", "type"=>"journal", "authors"=>[{"first_name"=>"Hong", "last_name"=>"Xia", "scopus_author_id"=>"56435221500"}, {"first_name"=>"Xiangjun", "last_name"=>"Huang", "scopus_author_id"=>"56687854300"}, {"first_name"=>"Yi", "last_name"=>"Guo", "scopus_author_id"=>"57188934398"}, {"first_name"=>"Pengzhi", "last_name"=>"Hu", "scopus_author_id"=>"56435202900"}, {"first_name"=>"Guangxiang", "last_name"=>"He", "scopus_author_id"=>"55455717700"}, {"first_name"=>"Xiong", "last_name"=>"Deng", "scopus_author_id"=>"55065572900"}, {"first_name"=>"Hongbo", "last_name"=>"Xu", "scopus_author_id"=>"35367450600"}, {"first_name"=>"Zhijian", "last_name"=>"Yang", "scopus_author_id"=>"55886569900"}, {"first_name"=>"Hao", "last_name"=>"Deng", "scopus_author_id"=>"26643632600"}], "year"=>2015, "source"=>"PLoS ONE", "identifiers"=>{"pmid"=>"26308726", "doi"=>"10.1371/journal.pone.0136306", "sgr"=>"84943266846", "scopus"=>"2-s2.0-84943266846", "issn"=>"19326203", "pui"=>"606225740"}, "id"=>"0ccb78e0-c085-3b32-9101-e969dd568c69", "abstract"=>"Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2), in the myoxin XVa gene (MYO15A) was identified by exome sequencing and Sanger sequencing. The homozygous MYO15A c.9316dupC variant co-segregated with the phenotypes in the ARNSHL family and was absent in two hundred normal controls. The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 complex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the homozygous MYO15A c.9316dupC variant might be the pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for ARNSHL, an extremely heterogeneous disorder. Our findings extend the mutation spectrum of the MYO15A gene and have important implications for genetic counseling for the family.", "link"=>"http://www.mendeley.com/research/identification-novel-myo15a-mutation-chinese-family-autosomal-recessive-nonsyndromic-hearing-loss", "reader_count"=>12, "reader_count_by_academic_status"=>{"Researcher"=>2, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>2, "Student > Postgraduate"=>2, "Student > Master"=>2, "Student > Bachelor"=>3}, "reader_count_by_user_role"=>{"Researcher"=>2, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>2, "Student > Postgraduate"=>2, "Student > Master"=>2, "Student > Bachelor"=>3}, "reader_count_by_subject_area"=>{"Biochemistry, Genetics and Molecular Biology"=>4, "Medicine and Dentistry"=>4, "Agricultural and Biological Sciences"=>4}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>4}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>4}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}}, "reader_count_by_country"=>{"Lithuania"=>1}, "group_count"=>0}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/2228149"], "description"=>"<p>The myosin XVa consists of 3530 amino acids, including an N-terminal extension domain and Motor domain, two light chain binding IQ motifs, two myosin-tail homology 4 (MyTH4) domains and band 4.1/ezrin/radixin/moesin (FERM) domains, a Src-homology-3 (SH3) domain and a C-terminal class I PDZ-ligand domain. The novel <i>MYO15A</i> mutation in this study is showed with red box at the bottom of the figure, and previously reported mutations are displayed at the top of the figure. <i>MYO15A</i>, the myosin XVa gene.</p>", "links"=>[], "tags"=>["mutation", "Novel MYO 15A Mutation", "MYO 15A c .9316dupC variant", "exome sequencing", "stereocilia", "prelingual hearing loss", "MYO 15A gene", "Autosomal Recessive Nonsyndromic Hearing Loss Autosomal recessive nonsyndromic hearing loss", "arnshl", "myoxin XVa gene", "disorder"], "article_id"=>1523345, "categories"=>["Uncategorised"], "users"=>["Hong Xia", "Xiangjun Huang", "Yi Guo", "Pengzhi Hu", "Guangxiang He", "Xiong Deng", "Hongbo Xu", "Zhijian Yang", "Hao Deng"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0136306.g002", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_The_schematic_structure_and_the_mutations_of_the_human_myosin_XVa_/1523345", "title"=>"The schematic structure and the mutations of the human myosin XVa.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-08-26 03:43:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/2228150"], "description"=>"<p>A, abnormality; ABR, auditory brainstem responses; AR, acoustic reflex; Bil, bilateral; DPOAE, distortion product otoacoustic emissions; L, left; MRI, magnetic resonance imaging; <i>MYO15A</i>, the myosin XVa gene; R, right; y, years; +, presence;-, absence</p><p>Phenotypes and genotypes of the ARNSHL family.</p>", "links"=>[], "tags"=>["mutation", "Novel MYO 15A Mutation", "MYO 15A c .9316dupC variant", "exome sequencing", "stereocilia", "prelingual hearing loss", "MYO 15A gene", "Autosomal Recessive Nonsyndromic Hearing Loss Autosomal recessive nonsyndromic hearing loss", "arnshl", "myoxin XVa gene", "disorder"], "article_id"=>1523346, "categories"=>["Uncategorised"], "users"=>["Hong Xia", "Xiangjun Huang", "Yi Guo", "Pengzhi Hu", "Guangxiang He", "Xiong Deng", "Hongbo Xu", "Zhijian Yang", "Hao Deng"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0136306.t001", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Phenotypes_and_genotypes_of_the_ARNSHL_family_/1523346", "title"=>"Phenotypes and genotypes of the ARNSHL family.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-08-26 03:43:50"}
  • {"files"=>["https://ndownloader.figshare.com/files/2228147"], "description"=>"<p>(A) Pedigree of the ARNSHL family. N, normal; M, the <i>MYO15A</i> c.9316dupC variant. (B) The homozygous <i>MYO15A</i> c.9316dupC variant of the affected individual (IV:2). (C) The heterozygous <i>MYO15A</i> c.9316dupC variant of the unaffected individual (III:1). (D) The <i>MYO15A</i> gene sequence of a normal control. ARNSHL, autosomal recessive nonsyndromic hearing loss; <i>MYO15A</i>, the myosin XVa gene.</p>", "links"=>[], "tags"=>["mutation", "Novel MYO 15A Mutation", "MYO 15A c .9316dupC variant", "exome sequencing", "stereocilia", "prelingual hearing loss", "MYO 15A gene", "Autosomal Recessive Nonsyndromic Hearing Loss Autosomal recessive nonsyndromic hearing loss", "arnshl", "myoxin XVa gene", "disorder"], "article_id"=>1523343, "categories"=>["Uncategorised"], "users"=>["Hong Xia", "Xiangjun Huang", "Yi Guo", "Pengzhi Hu", "Guangxiang He", "Xiong Deng", "Hongbo Xu", "Zhijian Yang", "Hao Deng"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0136306.g001", "stats"=>{"downloads"=>6, "page_views"=>33, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Pedigree_and_sequence_analysis_of_an_ARNSHL_family_/1523343", "title"=>"Pedigree and sequence analysis of an ARNSHL family.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-08-26 03:43:50"}

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Relative Metric

{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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